Test Code
|
Test |
List Price |
CPT Codes |
3000 |
Mitochondrial DNA Screening Panel (Point Mutations and Deletions) | 1050 |
83896x20, 83894x2, 83893x18, 83892x2, 83912, 83901, 83897x2, 83891 |
3005 |
Mitochondrial DNA Screen Panel Quantification | 375 |
83903, 83897, 83894, 83892, 83912, 83891 |
3020 |
Mitochondrial DNA Deletion Analysis | 425 |
83891, 83892x2, 83894x2, 83897x2, 83912 |
3025 |
Leber's Optic Neuropathy (LON) Point Mutations | 650 |
83896x15, 83893x15, 83901x2, 83912, 83891, 83900 |
3026 |
Leber's Optic Neuropathy (LON) Point Mutations - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3030 |
Maternally Inherited Sensorineural Hearing Loss (MISNHL) | 650 |
83904x4, 83912, 83898x4, 83891 |
3031 |
Maternally Inherited Sensorineural Hearing Loss (MISNHL) - KFM | 300 |
83912, 83900, 83901x2, 83904x2, 83894x2, 83891 |
3035 |
Cytochrome c Oxidase (COX) Subunits | 850 |
83904x10, 83898x4, 83912, 83891 |
3036 |
Cytochrome c Oxidase (COX) Subunits - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3040 |
Cytochrome b Subunit | 550 |
83904x5, 83898x2, 83912, 83891 |
3041 |
Cytochrome b Subunit - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3045 |
ATPase Subunits Sequencing | 550 |
83904x4, 83898, 83912, 83891 |
3046 |
ATPase Subunits Sequencing - KFM | 300 |
883904x4, 83898x2, 83912, 83891, 83894x2 |
3050 |
Complex I Subunits Sequencing | 1700 |
83904x24, 83898x8, 83912, 83891 |
3051 |
Complex I Subunits Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3055 |
Whole Genome Sequencing | 3250 |
83904x65, 83898x32, 83912, 83891 |
3056 |
Whole Genome Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3060 |
MNGIE-Thymidine Phosphorylase Sequencing | 1050 |
83904x8, 83898x4, 83912, 83891, 83894x2 |
3061 |
MNGIE-Thymidine Phosphorylase Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3062 |
MNGIE-Thymidine Phosphorylase Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3065 |
POLG1 Related Disorders - POLG1 Sequencing | 1950 |
83904x44, 83898x12, 83912, 83891, 83894x2 |
3066 |
POLG1 Related Disorders - POLG1 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3067 |
POLG1 Related Disorders - Prenatal | 1500 |
Please contact Billing for more information |
3070 |
Myopathic mtDNA Depletion Syndrome (Thymidine Kinase) TK2 Sequencing | 1600 |
83904x20, 83898X10, 83912, 83891, 83894x2 |
3071 |
Myopathic mtDNA Depletion Syndrome (Thymidine Kinase) TK2 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3072 |
Myopathic mtDNA Depletion Syndrome (Thymidine Kinase) TK2 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3075 |
Deoxyguanosine Kinase (DGUOK) Sequencing | 1300 |
83904x10, 83898x5, 83912, 83891, 83894x2 |
3076 |
Deoxyguanosine Kinase (DGUOK) Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3077 |
Deoxyguanosine Kinase (DGUOK) - Prenatal | 1500 |
Please contact Billing for more information |
3080 |
mtDNA Depletion and Multiple Deletions (POLG1, TK2, SUCLA2, & DGUOK) | 4200 |
83904x98, 83898x49, 83912x4, 83891, 83894x8 |
3085 |
SURF1 Sequencing | 1050 |
83904x16, 83898x8, 83912, 83891, 83894x2 |
3086 |
SURF1 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3087 |
SURF1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3090 |
SCO2 Sequencing | 425 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3091 |
SCO2 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3092 |
SCO2 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3095 |
SCO1 Sequencing | 650 |
83904x12, 83898x6, 83912, 83891, 83894x2 |
3096 |
SCO1 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3097 |
SCO1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3100 |
COX10 Sequencing | 800 |
83904x10, 83898x5, 83912, 83891, 83894x2 |
3101 |
COX10 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3102 |
COX10 - Prenatal | 1500 |
Please contact Billing for more information |
3105 |
Complex IV (COX) Deficiency (SURF1, SCO2, SCO1, & COX10) |
2600 |
83904x40, 83898x20, 83912x4, 83891, 83894x8 |
3110 |
BCS1L Related Complex III Deficiency | 650 |
83904x8, 83898x4, 83912, 83891, 83894x2 |
3111 |
BCS1L Related Complex III Deficiency - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3112 |
BCS1L Related Complex III Deficiency - Prenatal | 1500 |
Please contact Billing for more information |
3115 |
Medium Chain acyl-CoA Dehydrogenase Deficiency (MCAD) | 1100 |
83904x24, 83898x12, 83912, 83891 |
3116 |
Medium Chain acyl-CoA Dehydrogenase Deficiency (MCAD) - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3117 |
Medium Chain acyl-CoA Dehydrogenase Deficiency (MCAD) - One Mutation Analysis (K304E) | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3120 |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) | 2150 |
83904x40, 83898x20, 83912, 83891, 83894x2 |
3122 |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) - Common Mutation Analysis (1528G>C & 1132>T) | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3121 |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3125 |
Hereditary Fructose Intolerance - ALDOB Sequencing | 1050 |
83904x18, 83898x9, 83912, 83891, 83894x2 |
3126 |
Hereditary Fructose Intolerance - ALDOB Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3127 |
Hereditary Fructose Intolerance - ALDOB Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3130 |
Glycogen Storage Disease Type 1A (GSD1A) - G6PC Sequencing |
750 |
83904x10, 83898x5, 83912, 83891, 83894x2 |
3131 |
Glycogen Storage Disease Type 1A (GSD1A) - G6PC Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3135 |
Phenylketonuria (PKU) - PAH Sequencing | 1050 |
83904x24, 83898x12, 83912, 83891, 83894x2 |
3136 |
Phenylketonuria (PKU) - PAH Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3140 |
Ornithine Transcarbamylase Sequencing | 1050 |
83904x20, 83898x10, 83912, 83891, 83894x2 |
3141 |
Ornithine Transcarbamylase Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3142 |
Ornithine Transcarbamylase Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3145 |
Guanidinoacetate Methyltransferase (GAMT) - GAMT Sequencing | 850 |
83904x12, 83898x6, 83912, 83891, 83894x2 |
3146 |
Guanidinoacetate Methyltransferase (GAMT) - GAMT Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3147 |
Guanidinoacetate Methyltransferase (GAMT) - GAMT Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3150 |
Creatine Transporter (CRTR) Deficiency - CT1/SLC6A8 Sequencing | 1500 |
83904x26, 83898x13, 83912, 83891, 83894x2 |
3151 |
Creatine Transporter (CRTR) Deficiency - CT1/SLC6A8 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3155 |
Citrin Deficiency (Citrullinemia Type II) - SLC25A13 Sequencing | 1500 |
83904x36, 83898x18, 83912, 83891, 83894x2 |
3156 |
Citrin Deficiency (Citrullinemia Type II) - SLC25A13 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3157 |
Citrin Deficiency (Citrullinemia Type II) - SLC25A13 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3160 |
Carnitine Palmitoyltransferase II Deficiency - CPT2 Sequencing | 750 |
83904x10, 83898x5, 83912, 83891, 83894x2 |
3161 |
Carnitine Palmitoyltransferase II Deficiency - CPT2 Sequencing
- KFM |
300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3165 |
Pyruvate Dehydrogenase Deficiency - PDHA1 Sequencing |
1300 |
83904x22, 83898x11, 83912, 83891, 83894x2 |
3166 |
Pyruvate Dehydrogenase Deficiency - PDHA1 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3167 |
Pyruvate Dehydrogenase Deficiency - PDHA1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3170 |
ad-PEO 2 (ANT1/SLC25A4) Sequencing | 650 |
83904x8, 83898x4, 83912, 83891, 83894x2 |
3171 |
ad-PEO 2 (ANT1/SLC25A4) Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3172 |
ad-PEO 2 (ANT1/SLC25A4) Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3175 |
ad-PEO 3 (TWINKLE/PEO1) Sequencing | 750 |
83904x10, 83898x5, 83912, 83891, 83894x2 |
3176 |
ad-PEO 3 (TWINKLE/PEO1) Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3177 |
ad-PEO 3 (TWINKLE/PEO1) Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3180 |
Succinate Dehydrogenase Complex Subunit A - SDHA Sequencing | 1700 |
83891, 83898x15, 83904x30, 83912, 83894x2 |
3181 |
Succinate Dehydrogenase Complex Subunit A - SDHA Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3185 |
Succinate Dehydrogenase Complex Subunit B - SDHB Sequencing | 1080 |
83891, 83894x2, 83904x16, 83898x8, 83912 |
3186 |
Succinate Dehydrogenase Complex Subunit B - SDHB Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3190 |
Succinate Dehydrogenase Complex Subunit C - SDHC Sequencing | 750 |
83891, 83894x2, 83904x12, 83898x6, 83912 |
3191 |
Succinate Dehydrogenase Complex Subunit C - SDHC Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3195 |
Succinate Dehydrogenase Complex Subunit D (SDHD) Sequencing | 650 |
83891, 83894x2, 83904x8, 83898x4, 83912 |
3196 |
Succinate Dehydrogenase Complex Subunit D (SDHD) Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3200 |
Respiratory Chain (Electron Transport Chain) Enzymes - Skeletal Muscle | 800 |
84311x6, 82657x6, 83912, 83890 |
3210 |
Respiratory Chain (Electron Transport Chain) Enzymes - Skin Fibroblasts | 1050 |
84311x6, 82657x6, 88233, 83912, 83890, 88240 |
3300 |
Autosomal Dominant PEO Panel (POLG1, ANT1, and TWINKLE) | 2900 |
83904x60, 83898x30, 83912x3, 83891, 83894x6 |
3305 |
Progressive Familial Intrahepatic Cholestasis 1 (PFIC1) - ATP8B1 Sequencing | 2900 |
83891, 83898x27, 83904x54, 83912, 83894x2 |
3306 |
Progressive Familial Intrahepatic Cholestasis 1 (PFIC1) - ATP8B1 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3310 |
Progressive Familial Intrahepatic Cholestasis 2 (PFIC2) - ABCB11 Sequencing | 2900 |
83891, 83898x27, 83904x54, 83912, 83894x2 |
3311 |
Progressive Familial Intrahepatic Cholestasis 2 (PFIC2) - ABCB11 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3315 |
Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) - ABCB4/MDR3 Sequencing | 2900 |
83891, 83898x27, 83904x54, 83912, 83894x2 |
3316 |
Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) - ABCB4/MDR3 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3320 |
Infantile Hepatic mtDNA Depletion - MPV17 Sequencing | 750 |
83904x14, 83898x7, 83912, 83891, 83894x2 |
3321 |
Infantile Hepatic mtDNA Depletion - MPV17 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3322 |
Infantile Hepatic mtDNA Depletion - MPV17 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3335 |
Hepatocerebral mtDNA Depletion Panel (POLG1, DGUOK & MPV17) | 3500 |
83904x68, 83898x34, 83912x3, 83891, 83894x6 |
3340 |
Deafness-Dystonia-Optic Neuropathy Syndrome - TIMM8A Sequencing | 375 |
83891, 83904x4, 83898x2, 83912, 83894x2 |
3341 |
Deafness-Dystonia-Optic Neuropathy Syndrome - TIMM8A Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3345 |
Carbamoyl Phosphate Synthetase I Deficiency - CPS1 Sequencing | 3700 |
83891, 83904x76, 83898x38, 83912, 83894x2 |
3346 |
Carbamoyl Phosphate Synthetase I Deficiency - CPS1 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3347 |
Carbamoyl Phosphate Synthetase I Deficiency - CPS1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3350 |
N-Acetylglutamate Synthase Deficiency - NAGS Sequencing | 850 |
83891, 83904x14, 83898x7, 83912, 83894x2 |
3351 |
N-Acetylglutamate Synthase Deficiency - NAGS Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3355 |
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) - ACADVL Sequencing |
1900 |
83891, 83904x40, 83898x20, 83912, 83894x2 |
3356 |
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) - ACADVL Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3360 |
Systemic Carnitine Deficiency - SLC22A5 Sequencing | 1250 |
83891, 83904x20, 83898x10, 83912, 83894x2 |
3361 |
Systemic Carnitine Deficiency - SLC22A5 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3365 |
Carnitine Palmitoyltransferase 1 Deficiency - CPT1A Sequencing | 2150 |
83891, 83898x20, 83904x40, 83912, 83894x2 |
3366 |
Carnitine Palmitoyltransferase 1 Deficiency - CPT1A Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3370 |
Carnitine Palmitoyltransferase 1 Deficiency - CPT1B Sequencing |
2150 |
83891, 83898x18, 83904x36, 83912, 83894x2 |
3371 |
Carnitine Palmitoyltransferase 1 Deficiency - CPT1B Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3375 |
Encephalomyopathic mtDNA Depletion Syndrome - SUCLA2 Sequencing |
1350 |
83904x24, 83898x11, 83912, 83891, 83894x2 |
3376 |
Encephalomyopathic mtDNA Depletion Syndrome - SUCLA2 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3380 |
ad-PEO with mtDNA Deletions-4 (PEOA4) - POLG2 Sequencing | 850 |
83891, 83904x16, 83898x8, 83912, 83894x2 |
3381 |
ad-PEO with mtDNA Deletions-4 (PEOA4) - POLG2 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3385 |
Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADL) | 1250 |
83891, 83904x22, 83898x11, 83912, 83894x2 |
3386 |
Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADL) - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3390 |
Fatal Infantile Lactic Acidosis with mtDNA Depletion - SUCLG1 Sequencing | 1050 |
83891, 83904x18, 83898x9, 83912, 83894x2 |
3391 |
Fatal Infantile Lactic Acidosis with mtDNA Depletion - SUCLG1 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3392 |
Fatal Infantile Lactic Acidosis with mtDNA Depletion - SUCLG1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3405 |
Coenzyme Q10 Deficiency - PDSS1 Sequencing | 1400 |
83891, 83904x24, 83898x12, 83912, 83894x2 |
3406 |
Coenzyme Q10 Deficiency - PDSS1 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3407 |
Coenzyme Q10 Deficiency - PDSS1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3410 |
Coenzyme Q10 Deficiency - PDSS2 Sequencing | 950 |
83891, 83904x16, 83898x8, 83912, 83894x2 |
3411 |
Coenzyme Q10 Deficiency - PDSS2 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3412 |
Coenzyme Q10 Deficiency - PDSS2 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3415 |
Coenzyme Q10 Deficiency - COQ2 Sequencing | 850 |
83891, 83904x14, 83898x7, 83912, 83894x2 |
3416 |
Coenzyme Q10 Deficiency - COQ2 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3417 |
Coenzyme Q10 Deficiency - COQ2 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3420 |
Myopathic mtDNA Depletion Syndrome - RRM2B Sequencing | 900 |
83891, 83904x18, 83898x9, 83912, 83894x2 |
3421 |
Myopathic mtDNA Depletion Syndrome - RRM2B Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3422 |
Myopathic mtDNA Depletion Syndrome - RRM2B Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3425 |
Arginase Deficiency - ARG1 Sequencing | 950 |
83891, 83904x16, 83898x8, 83912, 83894x2 |
3426 |
Arginase Deficiency - ARG1 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3427 |
Arginase Deficiency - ARG1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3435 |
Carnitine-Acylcarnitine Translocase Deficiency - SLC25A20 Sequencing | 975 |
83891, 83904x18, 83898x9, 83912, 83894x2 |
3436 |
Carnitine-Acylcarnitine Translocase Deficiency - SLC25A20 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3440 |
Methylmalonic Aciduria and Homocystinuria, cblC Type - MMACHC Sequencing | 650 |
83891, 83904x8, 83898x4, 83912, 83894x2 |
3441 |
Methylmalonic Aciduria and Homocysteinuria, cblC Type - MMACHC Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3445 |
Tyrosinemia, Type 1 - FAH Sequencing | 1500 |
83891, 83904x28, 83898x14, 83912, 83894x2 |
3446 |
Tyrosinemia, Type 1 - FAH Sequencing- KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3455 |
L-Arginine:Glycine Amidinotransferase Deficiency - GATM sequencing | 1050 |
83891, 83904x18, 83898x9, 83912, 83894x2 |
3456 |
L-Arginine:Glycine Amidinotransferase Deficiency - GATM sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3457 |
L-Arginine:Glycine Amidinotransferase Deficiency - GATM sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3460 |
Maple Syrup Urine Disease Type 3 - DLD Sequencing | 1600 |
83891, 83904x28, 83898x14, 83912, 83894x2 |
3461 |
Maple Syrup Urine Disease Type 3 - DLD Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3465 |
Optic Atrophy Type I - OPA1 sequencing | 3500 |
83891, 83904x60, 83898x30, 83912, 83894x2 |
3466 |
Optic Atrophy Type I - OPA1 sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3467 |
Optic Atrophy Type I - OPA1 sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3475 |
TOMM20 Sequencing | 750 |
83891, 83904x10, 83898x5, 83912, 83894x2 |
3476 |
TOMM20 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3480 |
Complex I Deficiency - C6ORF66 Sequencing | 500 |
83891, 83904x6, 83898x3, 83912, 83894x2 |
3481 |
Complex I Deficiency - C6ORF66 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3485 |
Complex I Deficiency - NDUFA1 Sequencing | 650 |
83891, 83904x6, 83898x3, 83912, 83894x2 |
3486 |
Complex I Deficiency - NDUFA1 Sequencing - KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3500 |
MitoMetSM Mitochondrial/Metabolic oligonucleotide array CGH analysis | 1200 |
83896x3, 83912, 83903x2, 83891 |
3501 |
MitoMetSM Mitochondrial/Metabolic oligonucleotide array CGH analysis-CNV | 600 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3600 |
PHEO and PGL-Associated Syndromes Panel (SDHB, SDHC, and SDHD) | 2300 |
83891, 83894x6, 83904x36, 83898x18, 83912x3 |
3700 |
mtDNA content in Muscle | 750 |
83891, 83898x14, 83894, 83904x28, 83909x28, 83912 |
3710 |
mtDNA content in Cultured Skin Fibroblasts | 750 |
83891, 83898x14, 83894, 83904x28, 83909x28, 83912 |
3720 |
mtDNA content in Liver | 750 |
83891, 83898x14, 83894, 83904x28, 83909x28, 83912 |
3730 |
mtDNA content in Blood | 750 |
83891, 83898x14, 83894, 83904x28, 83909x28, 83912 |
3495 |
Biotinidase Deficiency- BTD Sequencing | 750 |
83891, 83904x8, 83898x4, 83912, 83894x2 |
3496 |
Biotinidase Deficiency- BTD Sequencing KFM | 300 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
4100 |
Amino Acids, Plasma-Quantitative | 230 |
82139, 82492 |
4110 |
Phenylalanine/Tyrosine - Serum, Plasma or Blood Spot Card | 60 |
84030, 84510 |
4130 |
Creatine/Guanidinoacetate Analysis, Plasma | 140 |
83789x2 |
4140 |
Homocysteine, Plasma-Quantitative | 60 |
83789x2 |
4150 |
Methylmalonic Acid, Plasma-Quantitative | 120 |
82543 |
4160 |
Amino Acids, CSF-Quantitative | 230 |
82139, 82492 |
4170 |
Amino Acids, Amniotic Fluid-Quantitative | 230 |
82139, 82492 |
4200 |
Organic Acid, Urine | 215 |
82541, 82570 |
4210 |
Orotic Acid/Orotidine, Urine-Quantitative | 75 |
82570, 83789x2 |
4220 |
Purine Profile, Urine | 260 |
82570, 83789x7 |
4240 |
Amino Acids, Urinary-Quantitative | 280 |
82139, 82486, 82570 |
4250 |
Succinylacetone, Urine-Quantitative | 230 |
82491, 82570 |
4260 |
Creatine/Guanidinoacetate Analysis, Urine | 200 |
82570, 83789x2 |
4300 |
Carnitine Combination, Plasma | 270 |
83789 |
4310 |
Carnitine Determination, Plasma-Quantitative | 125 |
83789x2 |
4330 |
Thymidine, Plasma | 200 |
83789x4 |
4340 |
Polyols, Urinary | 225 |
82544, 82570 |
4500 |
Acid Lipase, Amniotic Cell Culture | 1500 |
Please contact Billing for more information |
4501 |
Acid Lipase, Cultured Chorionic Villus Cells | 1500 |
Please contact Billing for more information |
4502 |
Acid Lipase, Liver | 290 |
82658, 84155 |
4503 |
Acid Lipase, Skin Fibroblast Culture | 450 |
82658, 88233, 84155, 88240 |
4504 |
Acid Lipase, White Blood Cells | 290 |
82658, 84155 |
4507 |
Adenosine Deaminase, Amniotic Cell Culture | 1500 |
Please contact Billing for more information |
4508 |
Adenosine Deaminase, Cultured Chorionic Villus Cells | 1500 |
Please contact Billing for more information |
4509 |
Adenosine Deaminase, Red Blood Cells | 380 |
82658 ,82489, 83026 |
4510 |
Adenosine Deaminase, Skin Fibroblast Culture | 485 |
82658, 82489, 88240, 88233, 84155 |
4511 |
Adenosine Deaminase, White Blood Cells | 300 |
82658, 84155, 82489 |
4512 |
Alpha-Fucosidase, Skin Fibroblast Culture | 335 |
82657, 84155, 88240, 88235 |
4513 |
Alpha-Fucosidase, White Blood Cells | 175 |
82657, 84155 |
4514 |
Aspartylglucosamine Aminohydrolase, Skin Fibroblast Culture | 290 |
82657, 84155, 84311, 88233, 88240 |
4516 |
Alpha-Galactosidase, Skin Fibroblast Culture | 335 |
82657, 84155, 88240, 88233 |
4517 |
Alpha-Galactosidase, White Blood Cells | 175 |
82657, 84155 |
4519 |
Alpha-Glucosidase, Muscle | 175 |
82657, 84155 |
4520 |
Alpha-Glucosidase, Skin Fibroblast Culture | 335 |
82657, 84155, 88240, 88233 |
4521 |
Argininosuccinate Lyase, Amniotic Cell Culture | 1500 |
Please contact Billing for more information |
4522 |
Argininosuccinate Lyase, Cultured Chorionic Villus Cells | 1500 |
Please contact Billing for more information |
4523 |
Argininosuccinate Lyase, Liver | 290 |
82657, 84311, 84520, 84155 |
4524 |
Argininosuccinate Lyase, Red Blood Cells | 290 |
82657, 84311, 84520, 84155 |
4525 |
Argininosuccinate Lyase, Skin Fibroblast Culture | 450 |
82658, 82491, 88240, 88233, 84155 |
4526 |
Alpha-Mannosidase - Serum | 150 |
82657 |
4527 |
Alpha-Mannosidase - Skin Fibroblast Culture | 335 |
82657, 84155, 88240, 88233 |
4528 |
Alpha-Mannosidase - White Blood Cells | 175 |
82657, 84155 |
4530 |
Chromosome Analysis, Cell Culture | 325 |
88233 |
4535 |
Arginase, Liver | 215 |
82657, 84155, 84520, 84311 |
4536 |
Arginase, Red Blood Cells | 215 |
82657, 83026, 84520, 84311 |
4537 |
Aryl Sulfatase A, Skin Fibroblast Culture | 335 |
82657, 84311, 84155, 88240, 88233 |
4538 |
Aryl Sulfatase A, White Blood Cells | 175 |
84311, 82657, 84155 |
4540 |
Aryl Sulfatase B, Skin Fibroblast Culture | 290 |
82657, 84311, 84155, 88240, 88233 |
4542 |
Argininosuccinate Synthetase, Amniotic Cell Culture | 1500 |
Please contact Billing for more information |
4543 |
Argininosuccinate Synthetase, Cultured Chorionic Villus Cells | 1500 |
Please contact Billing for more information |
4544 |
Argininosuccinate Synthetase, Liver | 290 |
82658, 82491, 84155 |
4545 |
Argininosuccinate Synthetase, Skin Fibroblast Culture | 450 |
82491, 84155, 82658, 88240, 88233 |
4548 |
Beta-Galactosidase, Skin Fibroblast Culture | 335 |
82657, 84155, 88240, 88233 |
4549 |
Beta-Galactosidase, White Blood Cells | 175 |
82657, 84155 |
4550 |
Beta-Glucuronidase, Serum | 175 |
82657, 84155 |
4551 |
Beta-Glucuronidase, Skin Fibroblast Culture | 335 |
82657, 84155, 88233, 88240 |
4553 |
Beta-Glucosidase, Skin Fibroblast Culture | 290 |
82657, 84155, 88240, 88233 |
4554 |
Beta-Glucosidase, White Blood Cells | 400 |
84155, 82963 |
4555 |
Biotinidase, Serum | 85 |
82261 |
4561 |
Carbamyl Phosphate Synthetase, Liver | 275 |
82657, 84155, 84311, 84520 |
4565 |
Galactocerebroside-Beta-Galactosidase, Skin Fibroblast Culture | 400 |
82658, 84155, 88233, 88240 |
4566 |
Galactocerebroside-Beta-Galactosidase, White Blood Cells | 240 |
82658, 84155 |
4569 |
Hexosaminidase A & B, Serum | 160 |
83080 |
4570 |
Hypoxanthine Phosphoribosyl Transferase (Lesch-Nyhan), Amniotic Cell Culture | 1500 |
Please contact Billing for more information |
4571 |
Hypoxanthine Phosphoribosyl Transferase (Lesch-Nyhan), Cultured Chorionic Villus Cells | 1500 |
Please contact Billing for more information |
4572 |
Hypoxanthine Phosphoribosyl Transferase (Lesch-Nyhan), Red Blood Cells | 380 |
82658, 83026 |
4573 |
Hypoxanthine Phosphoribosyl Transferase (Lesch- Nyhan), Skin Fibroblast Culture | 550 |
82489, 82658, 84155, 88233, 88240 |
4575 |
Alpha-L-Iduronidase, Skin Fibroblast Culture | 335 |
82657, 84155, 88240, 88233 |
4576 |
Alpha-L-Iduronidase, White Blood Cells | 175 |
82657, 84155 |
4579 |
Alpha-N-acetylglucosaminidase, Serum | 150 |
82657 |
4580 |
Alpha-N-acetylglucosaminidase, Skin Fibroblast Culture | 290 |
82657, 84155, 88240, 88233 |
4582 |
Ornithine Transcarbamylase, Liver | 275 |
82657, 84155, 84311 |
4583 |
Phosphatidyl-Myoinositol Bisphosphate Phosphatase, Amniotic Cell Culture | 1500 |
Please contact Billing for more information |
4584 |
Phosphatidyl-Myoinositol Bisphosphate Phosphatase, Cultured Chorionic Villus Cells | 1500 |
Please contact Billing for more information |
4585 |
Phosphatidyl-Myoinositol Bisphosphate Phosphatase, Skin Fibroblast Culture | 600 |
82489, 82658, 84155, 88233, 88240 |
4590 |
Purine Nucleoside Phosphorylase, Amniotic Cell Culture | 1500 |
Please contact Billing for more information |
4591 |
Purine Nucleoside Phosphorylase, Cultured Chorionic Villus Cells | 1500 |
Please contact Billing for more information |
4592 |
Purine Nucleoside Phosphorylase, Red Blood Cells | 380 |
82489, 82658, 83026 |
4593 |
Purine Nucleoside Phosphorylase, Skin Fibroblast Culture | 550 |
82489, 82658, 84155, 88233, 88240 |
4594 |
Purine Nucleoside Phosphorylase, White Blood Cells | 380 |
82489, 82658, 84155 |
4602 |
Skin Fibroblast Culture | 430 |
87109, 88233, 88240 |
4603 |
Sialidase, Skin Fibroblast Culture | 250 |
82657, 84155, 88233, 88240 |
4607 |
Sphingomyelinase, Skin Fibroblast Culture | 550 |
82658, 84155, 88233, 88240 |
4608 |
Sphingomyelinase, White Blood Cells | 285 |
82658, 84155 |
4613 |
Steroid Sulfatase, Amniotic Cell Culture | 1500 |
Please contact Billing for more information |
4614 |
Steroid Sulfatase, Skin Fibroblast Culture | 450 |
82658, 84155, 88233, 88240 |
4615 |
Steroid Sulfatase, White Blood Cells | 290 |
82658, 84155 |
4617 |
Tay-Sachs Carrier Testing | 160 |
83080 |
4619 |
Galactose-1-Phosphate Uridyl Transferase, Red Blood Cells | 190 |
82489, 82658, 83026 |
4627 |
Cystine in White Blood Cells, Quantitative | 230 |
82131, 84155 |
4630 |
Steroid Sulfatase, Cultured Chorionic Villus Cell Culture | 1500 |
Please contact Billing for more information |
6000 |
Achondroplasia | 300 |
83788, 83914x3, 83912, 83900, 83901, 83891 |
6001 |
Ashkenazic Disease Screen (ADS) (includes CF, Canavan, FD, and Tay-Sachs DNA) | 300 |
83788x6, 83914x15, 83912, 83891, 83901x2, 83900x2, 83898x2 |
6003 |
Ashkenazic Disease Screen Plus (ADS+) (includes CF, Canavan, FD, Tay-Sachs DNA, and Tay-Sachs enzymatic) | 375 |
83788x6, 83914x14, 83912, 83080, 83901x2, 83900x2, 83898x2, 83891 |
6006 |
Angelman Syndrome (Methylation) | 375 |
83896, 83891, 83912, 83897, 83894, 83892 |
6007 |
Angelman Syndrome - UBE3A Sequencing | 2300 |
83904x24, 83912, 83909x24, 83898, 83894, 83891 |
6012 |
Bloom Syndrome | 250 |
83788, 83914, 83912, 83898, 83891 |
6014 |
Cystic Fibrosis (CF) Mutation Analysis | 200 |
83788, 83914x2, 83912, 83900, 83901, 83898, 83891 |
6017 |
CFTR 5T Variant Analysis | 150 |
83788, 83914x3, 83912, 83900, 83901, 83891 |
6019 |
Connexin 26/GJB2 Related Hereditary Hearing Loss | 475 |
83904X3, 83912, 83909X6, 83898, 83894, 83891 |
6023 |
See test 6350 | ||
6027 |
Dentatorubral Pallidoluysian Atrophy (DRPLA) | 375 |
83898, 83891, 83894x2, 83892x2, 83897, 83896, 83912 |
6028 |
Factor V Leiden Mutation | 175 |
83914, 83912, 83898, 83891 |
6030 |
Familial Dysautonomia | 250 |
83788, 83914x2, 83898, 83912, 83891 |
6031 |
Friedreich Ataxia | 375 |
83898x2, 83891, 83912, 83892x2, 83894x3, 83896, 83897 |
6032 |
Fragile X Syndrome | 375 |
83900, 83901, 83891, 83892x3, 83894x3, 83896x2, 83897x2, 83912 |
6033 |
Gaucher Disease | 250 |
83898x2, 83890, 83893x6, 83896x7, 83912 |
6034 |
Huntington's Disease | 350 |
83912x2, 83900,83901x8, 83898x2, 83897x2, 83896x2, 83894x10, 83892x2, 83891x2 |
6035 |
Hemochromatosis | 225 |
83914x3, 83912, 83898x2, 83891 |
6036 |
Incontinentia Pigmenti | 550 |
83891, 83897, 83896, 83892, 83912 |
6037 |
Kennedy Disease | 300 |
83898, 83891, 83894, 83912 |
6039 |
Lowe Syndrome - OCRL Sequencing |
1675 |
83904x23, 83912, 83909x66, 83898x12, 83894, 83891 |
6040 |
Maternal Cell Contamination (performed on all prenatals) | 160 |
Please contact Billing for more information |
6041 |
Myotonic Dystrophy | 375 |
83898, 83891, 83892x2, 83894x3, 83896x2, 83897x2, 83912 |
6045 |
MTHFR Variant Analysis | 175 |
83914, 83912, 83898, 83891 |
6047 |
Niemann-Pick Disease (Type A) | 250 |
83788, 83914x3, 83912, 83900, 83901, 83891 |
6048 |
Prothrombin (Factor II) | 175 |
83914, 83912, 83898, 83891 |
6050 |
Prader-Willi Syndrome (Methylation) | 375 |
83891, 83892, 83896, 83897, 83912 |
6052 |
RhD Molecular Typing (Trio) | 300 |
83900, 83901x2, 83894x2, 83890, 83912 |
6053 |
Sickle Cell | 300 |
83788, 83914x3, 83912, 83891 |
6054 |
Spinocerebellar Ataxia Type 1 (SCA1) | 375 |
83898, 83891, 83892, 83894x2, 83896, 83897, 83912 |
6055 |
Spinocerebellar Ataxia Type 10 (SCA10) | 375 |
83898, 83891, 83892, 83894x2, 83896, 83897, 83912 |
6059 |
Spinal Muscular Atrophy (SMA) | 300 |
83898x2, 83891, 83892x2, 83912 |
6060 |
SRY Gene | 300 |
83900, 83901, 83891, 83894, 83912 |
6062 |
Thrombophilia Panel (Factor V, Prothrombin & MTHFR) | 375 |
83904x3, 83912, 83898x3, 83891 |
6063 |
Fabry Disease - GLA Sequencing | 1350 |
83904X7, 83912, 83909X14, 83898X11, 83894, 83891 |
6065 |
Noonan Syndrome - PTPN11 Sequencing |
1950 |
83904x15, 83909x30, 83898x10, 83894, 83891 |
6066 |
Tay-Sachs Disease Screen | 175 |
83788, 83912, 83900, 83901, 83891 |
6067 |
ARX Related Disorders | 775 |
83904x25, 83912, 83909x25, 83898x10, 83894, 83891 |
6068 |
Rett Syndrome MECP2 Sequencing | 1225 |
83904x7, 83912, 83909x14, 83898x10, 83894, 83891 |
6069 |
Rett Syndrome Deletion/Duplication Analysis | 600 |
83891, 83892x2, 83894x4, 83896x2, 83897x2, 83912 |
6070 |
Canavan Disease Screen | 175 |
83788, 83914x3, 83912, 83900, 83901, 83891 |
6072 |
Angelman Syndrome - UBE3A Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6073 |
Angelman Syndrome - UBE3A Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6074 |
ARX Related Disorders - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6075 |
ARX Related Disorders - Prenatal | 1500 |
Please contact Billing for more information |
6078 |
Connexin 26/GJB2 Related Hereditary Hearing Loss - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6080 |
Cystic Fibrosis (CF) - Prenatal | 1500 |
Please contact Billing for more information |
6086 |
Familial Adenomatous Polyposis - APC Deletion/Duplication Assay | 625 |
83901x12, 83900, 83908x17, 83912, 83896x17 |
6087 |
Familial Adenomatous Polyposis - APC Sequencing | 1675 |
83904x28, 83912, 83909x52, 83898x28, 83894, 83891 |
6089 |
Familial Adenomatous Polyposis - APC Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6090 |
Familial Adenomatous Polyposis - APC Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6091 |
Fragile X Syndrome - Prenatal | 1500 |
Please contact Billing for more information |
6092 |
Familial Adenomatous Polyposis - APC Deletion/Duplication Assay - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83894, 83891 |
6094 |
Hereditary Non-Polyposis Colon Cancer (HNPCC) Panel (MLH1, MSH2, MSH6) | 3200 |
83904x51, 83912, 83909x102 ,83898x51, 83894, 83891 |
6095 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MLH1 Sequencing | 1150 |
83904x19, 83912, 83909x38, 83898x19, 83894, 83891 |
6096 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH2 Sequencing | 1150 |
83904x16, 83912, 83909x32, 83898x16, 83894, 83891 |
6097 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH6 Sequencing | 1150 |
83904x19, 83912, 83909x38, 83898x19, 83894, 83891 |
6098 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSI & IHC | 875 |
88342x4, 83894x2, 83912, 83901x2, 83900, 83891 |
6099 |
Huntington's Disease - Prenatal | 1500 |
Please contact Billing for more information |
6100 |
Incontinentia Pigmenti - Prenatal | 1500 |
Please contact Billing for more information |
6101 |
Lowe Syndrome - OCRL Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6102 |
Lowe Syndrome - OCRL Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6103 |
MYH Associated Polyposis (MYH) - KFM |
300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6104 |
MYH Associated Polyposis (MYH) - 2 Mutation Panel | 300 |
83901, 83900, 83912, 83896x2, 83893x2, 83890 |
6105 |
Myotonic Dystrophy - Prenatal | 1500 |
Please contact Billing for more information |
6106 |
Noonan Syndrome - PTPN11 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6107 |
Noonan Syndrome - PTPN11 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6108 |
Rett Syndrome MECP2 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6109 |
Rett Syndrome Deletion/Duplication Analysis - Prenatal | 1500 |
Please contact Billing for more information |
6110 |
Rett Syndrome MECP2 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6111 |
RhD Molecular Typing (Trio) - Prenatal | 1500 |
Please contact Billing for more information |
6112 |
Rothmund Thomson Syndrome - RECQL4 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6113 |
Spinocerebellar Ataxia Type 1 (SCA1) - Prenatal | 1500 |
Please contact Billing for more information |
6114 |
Spinocerebellar Ataxia Type 10 (SCA10) - Prenatal | 1500 |
Please contact Billing for more information |
6115 |
X-linked Ocular Albinism - GPR143 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6116 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MLH1 Deletion/Duplication Assay | 625 |
83901x16, 83900, 83908x16, 83912, 83896x16 |
6117 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH2 Deletion/Duplication Assay | 625 |
83901x16, 83900, 83908x16, 83912, 83896x19 |
6118 |
Li-Fraumeni syndrome - P53 Gene Mutation Analysis | 1400 |
83904x11, 83912, 83909x22, 83898x11, 83894, 83891 |
6119 |
Li-Fraumeni syndrome - P53 Gene Mutation Analysis - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6120 |
MYH Associated Polyposis (MYH) |
1150 |
83904x19, 83912, 83909x18, 83898x9, 83894, 83891 |
6121 |
Rothmund Thomson Syndrome - RECQL4 Sequencing | 2050 |
83904x22, 83912, 83909x44, 83898x11, 83894, 83891 |
6122 |
Rothmund Thomson Syndrome - RECQL4 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6123 |
X-linked Ocular Albinism - GPR143 Sequencing | 1150 |
83904x9, 83912, 83909x18, 83898x28, 83894, 83891 |
6125 |
Cartilage Hair Hypoplasia - RMRP Sequencing | 325 |
83904X25, 83912, 83909X25, 83898X12, 83894, 83891 |
6126 |
CDKL5/STK9 Sequencing | 3000 |
83904X25, 83912, 83909X25, 83898X12, 83894, 83891 |
6127 |
Pelizaeus-Merzbacher Disease - PLP1 Sequencing |
900 |
83904x7, 83912, 83909x14, 83898x10, 83894, 83891 |
6128 |
Pelizaeus-Merzbacher Disease - PLP1 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6129 |
CDKL5/STK9 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6130 |
Cartilage Hair Hypoplasia - RMRP Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6131 |
Cartilage Hair Hypoplasia - RMRP Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6132 |
CDKL5/STK9 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6133 |
Pelizaeus-Merzbacher Disease - PLP1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6135 |
Fabry Disease - GLA Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6136 |
Fabry Disease - GLA Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6140 |
See test 6351 | ||
6142 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MLH1 Sequencing - KFM | 300 |
83904X4, 83912, 83909X4, 83898X2, 83894, 83891 |
6143 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH2 Sequencing - KFM | 300 |
83904X4, 83912, 83909X4, 83898X2, 83894, 83891 |
6144 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH6 Sequencing - KFM | 300 |
83904X4, 83912, 83909X4, 83898X2, 83894, 83891 |
6145 |
X-linked Ocular Albinism - GPR143 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6146 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MLH1 Del/Dup Assay - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6147 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH2 Del/Dup Assay - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6150 |
Cleidocranial Dysplasia | 1000 |
83904x16, 83912, 83909x16, 83898x8, 83894, 83891 |
6151 |
Cleidocranial Dysplasia - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6152 |
Cleidocranial Dysplasia - Prenatal | 1500 |
Please contact Billing for more information |
6165 |
CHARGE Syndrome - CHD7 Sequencing |
4150 |
83904x76, 83912, 83909x76, 83898x38, 83894, 83891 |
6170 |
CHARGE Syndrome - CHD7 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6175 |
CHARGE Syndrome - CHD7 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6180 |
Citrullinemia Type I (CTLN1) | 1800 |
83904x30, 83912, 83909x30, 83898x15, 83894, 83891 |
6185 |
Citrullinemia Type I (CTLN1) - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6190 |
Citrullinemia Type I (CTLN1) - Prenatal | 1500 |
Please contact billing for more information |
6195 |
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
- AIRE Sequencing |
2100 |
83904x32, 83912, 83909x32, 83898x18, 83894, 83891 |
6200 |
Autoimmune Polyendocrinopathy-Candidiasis Ectodermal Dystrophy (APECED) - AIRE Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6205 |
Autoimmune Polyendocrinopathy-Candidiasis Ectodermal Dystrophy (APECED) - AIRE Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6210 |
Leukoencephalopathy w/ Vanishing White Matter - EIF2B5 Sequencing | 1675 |
83904x28, 83912, 83909x28, 83898x14, 83894, 83891 |
6215 |
Leukoencephalopathy w/ Vanishing White Matter - EIF2B5 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6220 |
Leukoencephalopathy w/ Vanishing White Matter EIF2B5 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6225 |
Familial Hypercholesterolemia - LDLR Gene Sequencing | 2200 |
83891, 83898x 18, 83894, 83904x 36, 83909x 36, 83912 |
6230 |
Familial Hypercholesterolemia - LDLR Gene Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6240 |
Lesch-Nyhan - HPRT1 Sequencing | 1350 |
83891x1, 83898x11, 83894x1, 83904x22, 83909x22, 83912x1 |
6245 |
Lesch-Nyhan - HPRT1 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6250 |
Lesch-Nyhan - HPRT1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6255 |
Diamond-Blackfan Anemia - RPS19 Sequencing | 800 |
83904x12, 83912, 83909x12, 83898x6, 83894, 83891 |
6260 |
Diamond-Blackfan Anemia - RPS19 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6265 |
Diamond-Blackfan Anemia - RPS19 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6270 |
Nail-Patella Syndrome - LMX1B Sequencing | 1000 |
83904x16, 83912, 83909x16, 83898x8, 83894, 83891 |
6275 |
Nail-Patella Syndrome - LMX1B Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6280 |
Nail-Patella Syndrome - LMX1B Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6285 |
Schmid Metaphyseal Chondrodysplasia - COL10A1 Sequencing | 775 |
83904x12, 83912, 83909x12, 83898x6, 83894, 83891 |
6290 |
Schmid Metaphyseal Chondrodysplasia - COL10A1 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6295 |
Schmid Metaphyseal Chondrodysplasia - COL10A1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6310 |
Osteogenesis Imperfecta, Autosomal Recessive - CRTAP Sequencing | 1000 |
83891, 83898X8, 83894, 83904x16, 83909x16, 83912 |
6315 |
Osteogenesis Imperfecta, Autosomal Recessive - CRTAP Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6320 |
Osteogenesis Imperfecta, Autosomal Recessive - CRTAP Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6325 |
Osteogenesis Imperfecta, Autosomal Recessive - LEPRE1 Sequencing | 2100 |
83891, 83898X16, 83894, 83904x32, 83909x32, 83912 |
6330 |
Osteogenesis Imperfecta, Autosomal Recessive - LEPRE1 Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6335 |
Osteogenesis Imperfecta, Autosomal Recessive - LEPRE1 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6345 |
Focal Dermal Hypoplasia - PORCN Sequencing | 1400 |
83891, 83898X11, 83894, 83904x22, 83909x22, 83912 |
6346 |
Focal Dermal Hypoplasia - PORCN Sequencing - KFM | 300 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6347 |
Focal Dermal Hypoplasia - PORCN Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6355 |
GJB6-Related DFNB1 Hereditary Hearing Loss | 285 |
83891, 83894, 83900, 83901, 83912 |
6360 |
Argininosuccinate Aciduria - ASL Sequencing | 1800 |
83891, 83898x13, 83894, 83904x26, 83909x26, 83912 |
6361 |
Argininosuccinate Aciduria - ASL Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6362 |
Argininosuccinate Aciduria - ASL Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6365 |
Friedreich Ataxia (FRDA) - FXN Sequencing | 900 |
83891, 83898x6, 83894, 83904x12, 83909x12, 83912 |
6366 |
Friedreich Ataxia (FRDA) - FXN Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6370 |
Cystic Fibrosis (CF) - CFTR Sequencing | 1800 |
83891, 83898x29, 83894, 83904x58, 83909x58, 83912 |
6371 |
Cystic Fibrosis (CF) - CFTR Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6372 |
Cystic Fibrosis (CF) - CFTR Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6380 |
Arylsulfatase A Deficiency - ARSA Sequencing | 900 |
83891, 83898x6, 83894, 83904x12, 83909x12, 83912 |
6381 |
Arylsulfatase A Deficiency - ARSA Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6382 |
Arylsulfatase A Deficiency - ARSA Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6385 |
Mucopolysaccharidosis I (MPS1) - IDUA Sequencing | 1550 |
83891, 83898x14, 83894, 83904x28, 83909x28, 83912 |
6386 |
Mucopolysaccharidosis I (MPS1) - IDUA Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6387 |
Mucopolysaccharidosis I (MPS1) - IDUA Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6390 |
Mucopolysaccharidosis Type II (MPS II) - IDS Sequencing | 1100 |
83891, 83898x10, 83894, 83904x20, 83909x20, 83912 |
6391 |
Mucopolysaccharidosis Type II (MPS II) - IDS Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6392 |
Mucopolysaccharidosis Type II (MPS II) - IDS Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6400 |
Mucopolysaccharidosis Type IVA - GALNS Sequencing | 1850 |
83891, 83898x14, 83894, 83904x28, 83909x28, 83912 |
6405 |
Mucopolysaccharidosis Type IVA - GALNS Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6415 |
Krabbe Deficiency - GALC Sequencing | 2350 |
83891, 83898x20, 83894, 83904x40, 83909x40, 83912 |
6420 |
Krabbe Deficiency - GALC Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6430 |
Wolman Disease - LIPA Sequencing | 1300 |
83891, 83898x11, 83894, 83904x22, 83909x22, 83912 |
6435 |
Wolman Disease - LIPA Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6440 |
Wolman Disease - LIPA Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
6445 |
Noonan Syndrome - KRAS Sequencing | 900 |
83891, 83898x6, 83894, 83904x12, 83909x12, 83912 |
6450 |
Noonan Syndrome - KRAS Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6460 |
Noonan Syndrome - SOS1 Sequencing | 1550 |
83891, 83898x28, 83894, 83904x56, 83909x56, 83912 |
6465 |
Noonan Syndrome - SOS1 Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6475 |
Noonan Syndrome - RAF1 Sequencing | 2350 |
83891, 83898x16, 83894, 83904x32, 83909x32, 83912 |
6480 |
Noonan Syndrome - RAF1 Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6505 |
PTEN-Related Disorders - PTEN Sequencing | 1200 |
83891, 83898x12, 83894, 83904x24, 83909x24, 83912 |
6510 |
PTEN-Related Disorders - PTEN Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6520 |
Familial platelet disorder with associated myeloid malignancy - RUNX1 Sequencing | 900 |
83891, 83898x11, 83894, 83904x22, 83909x22, 83912 |
6525 |
Familial platelet disorder with associated myeloid malignancy - RUNX1 Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6540 |
X-linked Angelman-like Syndrome - SLC9A6 Sequencing | 950 |
83891, 83898x19, 83894, 83904x38, 83909x38, 83912 |
6541 |
X-linked Angelman-like Syndrome - SLC9A6 Sequencing - KFM | 300 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6542 |
X-linked Angelman-like Syndrome - SLC9A6 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
8300 |
Chromosome Analysis - Bone Marrow | 875 |
88262, 88230, 88289, 88291, 88280 |
8310 |
Chromosome Analysis - Oncology Blood | 875 |
88262, 88230, 88289, 88291, 88280 |
8320 |
Oncology FISH (single probe) | 450 |
88230, 88271, 88273, 88291 |
8330 |
Oncology FISH (dual probe) | 550 |
88230, 88271, 88273, 88291 |
8340 |
Oncology FISH (Multi probe) | 950 |
88271x38, 88273, 88230, 88291 |
8410 |
Aneuploidy FISH (Amnio or CVS) | 600 |
Please contact Billing for more information |
8425 |
FISH - STAT (13 or 18 or X&Y only) | 900 |
88230, 88271, 88273, 88291, 99050 |
8430 |
Langer Giedion Syndrome (includes Ext 1 & TRPS 1) FISH Panel | 800 |
88230, 88271x3, 88273, 88291, 88280 |
8435 |
Multiple Exostoses FISH Panel (includes Ext 1 & Ext 2) | 800 |
88230, 88273, 88271x2, 88291, 88280 |
8440 |
Velocardiofacial Syndrome (22 & 10p) FISH Panel | 800 |
88230, 88273, 88271x2, 88291, 88280 |
8455 |
Wilms Tumor (WT1) FISH | 700 |
88230, 88271, 88273, 88291 |
8456 |
1p36 deletion FISH | 700 |
88230, 88271, 88273, 88291 |
8457 |
Adrenal Hypoplasia Congenita FISH | 700 |
88230, 88271, 88273, 88291 |
8458 |
Alagille Syndrome FISH | 700 |
88230, 88271, 88273, 88291 |
8459 |
Angelman Syndrome FISH | 700 |
88230, 88271, 88273, 88291 |
8450 |
WAGR (Aniridia) FISH Panel | 800 |
88230, 88271x3, 88273, 88280, 88291 |
8460 |
Beckwith-Wiedemann Syndrome FISH | 700 |
88230, 88271, 88273, 88291 |
8461 |
Centromere FISH Panel | 1025 |
88230, 88271x38, 88273, 88291 |
8462 |
Charcot-Marie-Tooth Disease (CMT1A) FISH | 700 |
88230, 88271, 88273, 88291 |
8463 |
Chromosomes Full Paint FISH | 1025 |
88271x38, 88273, 88230, 88291 |
8464 |
Cri-du-Chat FISH | 500 |
88230, 88271, 88273, 88291 |
8465 |
DiGeorge Syndrome II (10p only) FISH | 700 |
88230, 88271, 88273, 88291 |
8466 |
Glycerol Kinase Deficiency FISH | 700 |
88230, 88273, 88271, 88291 |
8467 |
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) / Inherited Peripheral Neuropathies FISH | 700 |
88230, 88271, 88273, 88291 |
8468 |
Isolated Lissencephaly FISH | 500 |
88230, 88271, 88273, 88291 |
8469 |
Kallman Syndrome FISH | 500 |
88230, 88273, 88271, 88291 |
8470 |
MLS/MIDAS - FISH | 700 |
88230, 88273, 88271, 88291 |
8471 |
Miller-Dieker Syndrome (Isolated Lissencephaly) - FISH | 700 |
88230, 88273, 88271, 88291 |
8472 |
Multiple Exostoses 1 FISH | 500 |
88230, 88273, 88271, 88291 |
8473 |
Multiple Exostoses 2 FISH (Potocki/Shaffer) | 700 |
88230, 88273, 88271, 88291 |
8474 |
Neurofibromatosis 1 FISH | 700 |
88230, 88273, 88271, 88291 |
8475 |
Pelizaeus-Merzbacher Disease/Spastic Paraplegia 2 FISH | 700 |
88230, 88273, 88271, 88291 |
8476 |
Prader-Willi Syndrome FISH | 700 |
88230, 88273, 88271, 88291 |
8477 |
Rubinstein-Taybi Syndrome FISH | 700 |
88230, 88271, 88273, 88291 |
8478 |
Smith-Magenis Syndrome FISH | 700 |
88230, 88271, 88273, 88291 |
8479 |
SOTOS Syndrome FISH | 700 |
88230, 88271, 88273, 88291 |
8480 |
SRY Analysis FISH | 500 |
88230, 88271, 88273, 88291 |
8481 |
Telomeres FISH | 1025 |
88230, 88271X38, 88273, 88291 |
8482 |
Trichorhinophalangeal Syndrome FISH | 700 |
88230, 88271, 88273, 88291 |
8483 |
Williams Syndrome FISH | 500 |
88230, 88271, 88273, 88291 |
8484 |
Wolf-Hirschorn Syndrome FISH | 500 |
88230, 88271, 88273, 88291 |
8485 |
X-linked Ichthyosis/ Steroid Sulfatase Deficiency FISH | 500 |
88230, 88271, 88273, 88291 |
8486 |
DiGeorge Syndrome I (22q only) FISH | 700 |
88230, 88271, 88273, 88291 |
8500 |
Chromosome Analysis + AFP | 950 |
88269, 88235, 88280X2, 88285, 82106, 88291 |
8501 |
AFAFP (+AFP) | 45 |
82106 |
8502 |
AcHE | 75 |
82013 |
8510 |
Chromosome Analysis+ AFP + AchE (AMNIO) | 1150 |
88269, 88235, 88280x2, 88285, 82106, 88291, 82013 |
8520 |
Chromosome Analysis+ AFP + AchE + FH (AMNIO) | 1200 |
88269, 88235, 88280x2, 88285, 82106, 88291, 82013, 83030 |
8530 |
Chromosome Analysis, No AFP (AMNIO) | 925 |
88269, 88235, 88280x2, 88285 |
8600 |
Chromosome Analysis - Blood | 800 |
88262, 88230, 88289, 88291, 88280 |
8655 |
Chromosomal Microarray 105K (CMA) | Please contact Billing for more information | |
8656 |
Chromosomal Microarray 105K (CMA) Prenatal - Amniotic Cell Culture | Please contact Billing for more information | |
8657 |
Chromosomal Microarray 105K (CMA) Prenatal - Cultured Chorionic Villus Cells | Please contact Billing for more information | |
8659 |
Chromosomal Microarray 105K (CMA) Prenatal - Tissue | Please contact Billing for more information | |
8700 |
Chromosome Analysis (CVS) | 1050 |
88267, 88235, 88280x2, 88285, 88291 |
8800 |
Chromosome Analysis - Tissue Biopsy | 875 |
88262, 88233, 88291 |