Test Descriptions By Gene
PreventionGenetics offers a steadily
expanding menu of Clinical DNA tests. Our laboratory is fully CLIA-accredited through CAP. Please use the Requisition
Form when ordering tests. Click on the links in the following list
for test descriptions and test prices. CPT Codes for each test are listed
at the bottom of the Test Descriptions.
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| BRAF | Cardio-Facio-Cutaneous (CFC) Syndrome | View | View | 164757 |
| BSCL2 | Seipin-Related Disorders | View | 606158 | |
| BTD | Multiple Carboxylase Deficiency (Juvenile Onset) | View | 609019 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| EIF2B1-EIF2B5 | Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy | View | 603896 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| FAH | Tyrosinemia, Type I | View | 276700 | |
| FKRP | Limb Girdle Muscular Dystrophy, Type 21 | View | View | 606596 |
| Congenital Muscular Dystrophy, Type 1C | 606596 | |||
| FKTN | Fukuyama Congenital Muscular Dystrophy, Walker-Warburg Syndrome, Limb Girdle Muscular Dystrophy | View | 607440 | |
| Walker-Warburg Syndrome | 607440 | |||
| Limb Girdle Muscular Dystrophy | 607440 | |||
| Japanese Founder Mutation PCR | 607440 | |||
| FLNC | Myofibrillar Myopathy | View | 102565 | |
| FLT4 | Hereditary Lymphedema, Type I (Milroy Disease) | View | View | 136352 |
| FOXC2 | Lymphedema/Distichiasis Syndrome, Hereditary Lymphedema, Type II | View | View | 602402 |
| FUS | Amyotrophic Lateral Sclerosis / Motor Neuron Disease | View | 105400 | |
| FUS | Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS Panel) | 105400 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| HEXA | Tay-Sachs Disease | View | 606896 | |
| HEXB | Tay-Sachs Disease | View | 606873 | |
| HLCS | Multiple Carboxylase Deficiency | View | 609018 | |
| HMGCL | HMG-CoA Lyase Deficiency | View | View | 246450 |
| HRAS | Costello Syndrome | View | View | 190020 |
| HSPB1 | Heat Shock 27 kDa Protein-Related Disorders | 606595 | ||
| HSPB8 | Heat Shock 22 kDa Protein-Related Disorders | 608014 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| IGHMBP2 | Spinal Muscular Atrophy with Respiratory Distress Type 1 | View | 604320 | |
| IMPDH1 | Retinitis Pigmentosa (Autosomal Dominant, Nonsyndromic) | View | 146690 | |
| INPP5E | Ciliopathy | View | 213300 | |
| INVS | Nephronophthisis | 602088 | ||
| IQCB1/NPHP5 | Nephronophthisis and Senior-Loken Syndrome | 609237 | ||
| ITGA7 | Integrin Alpha 7-Related Congenital Myopathy Testing | View | 600536 | |
| IVD | Isovaleric Acidemia | View | View | 607036 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| JAG1 | Alagille Syndrome | View | 601920 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| KRAS | Cardio-Facio-Cutaneous Syndrome | View | View | 190070 |
| Noonan, CFC and Costello Syndromes | View | 190070 | ||
| KRIT1(CCM1) | KRIT1/CCM1 Gene Sequencing | View | View | 604214 |
| KRIT1/CCM1 "Common Hispanic" Mutation | 604214 | |||
| CCM Sequential Test | 604214 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| LAMA2 | Merosin-Deficient Congenital Muscular Dystrophy | View | 156225 | |
| Mexican Exon 55 Mutation | 156225 | |||
| LARGE | Walker-Warburg Syndrome | View | 603590 | |
| Congenital Muscular Dystrophy, Type 1D | 603590 | |||
| LDB3 | Myofibrillar Myopathy | View | 605906 | |
| LFNG | Spondylocostal Dysostosis | View | 602576 | |
| Spondylocostal Dysostosis Sequential Test | 602576 | |||
| LMNA | Hutchinson-Gilford Progeria Syndrome | View | View | 150330 |
| Atypical Werner Syndrome | 150330 | |||
| Charcot-Marie-Tooth Neuropathy Type 2B1 | 150330 | |||
| Dilated Cardiomyopathy | 150330 | |||
| Emery-Dreifuss Muscular Dystrophy | 150330 | |||
| Familial Partial Lipodystrophy | 150330 | |||
| Hutchinson-Gilford Progeria Syndrome | 150330 | |||
| Lethal Tight Skin Contracture Syndrome (Restrictive Dermopathy) | 150330 | |||
| Limb-Girdle Muscular Dystrophy Type 1B | 150330 | |||
| Lipoatrophy | 150330 | |||
| LMNA-Related Dilated Cardiomyopathy | 150330 | |||
| Mandibuloacral Dysplasia | 150330 | |||
| LPIN1 | Childhood Recurrent Acute Myoglobinuria, Autosomal Recessive | View | 605518 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| NAGS | Hyperammonemia | View | 608300 | |
| NEB | Nemaline Myopathy | View | View | 161650 |
| Ashkenazi Jewish Mutation Exon 55 Deletion Test | 161650 | |||
| NF1 | Neurofibromatosis-Noonan Syndrome | View | 162200 | |
| NF1 | Neurofibromatosis Type 1 and Related Disorders | View | 162200 | |
| NF2 | Neurofibromatosis Type 2 | View | 101000 | |
| NPC1 | Niemann-Pick Disease Type C1 | 607623 | ||
| NPC2 | Niemann-Pick Disease Type C2 | 601015 | ||
| NPHP1 | NPHP1 Homozygous Deletion Testing for Joubert Syndrome and Nephronophthisis | View | View | 607100 |
| Nephronophthisis and Joubert Syndrome | View | View | 256100 | |
| Joubert Syndrome Sequential Test | View | View | 607100 | |
| NPHP2/INVS | Nephronophthisis | 602088 | ||
| NPHP3 | Nephronophthisis | 608002 | ||
| NPHP4 | Nephronophthisis | 607215 | ||
| NR2E3 | Retinitis Pigmentosa (Autosomal Dominant or Recessive, Nonsyndromic) | View | 604485 | |
| NSD1 | Sotos Syndrome | View | 606681 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| OTC | Hyperammonemia | View | View | 30046 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| RAF1 | Noonan and Leopard Syndromes | View | 164760 | |
| Noonan Syndrome Sequential Testing | 164760 | |||
| RAPSN | Rapsyn-Related Disorders | View | 601592 | |
| RAPSN | Congenital Myasthenic Syndrome Panel | 608931 | ||
| RAPSN | Pena-Shokeir Syndrome, Type 1 (Fetal Akinesia Deformation Sequence) | 208150 | ||
| RHO | Retinitis Pigmentosa (Autosomal Dominant, Nonsyndromic) | View | 268000 | |
| ROR2 | Robinow Syndrome, Autosomal Recessive; Brachydactyly, Type B1 | View | 602337 | |
| RP1 | Retinitis Pigmentosa (Autosomal Dominant, Nonsyndromic) | View | 603937 | |
| RPE65 | Leber Congenital Amaurosis or Retinitis Pigmentosa | 180069 | ||
| RPGRIP1L | Joubert and Meckel-Gruber Syndromes | View | 164760 | |
| RUNX1 | Familial Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia | View | 151385 | |
| RYR1 | Malignant Hyperthermia Susceptibility | View | 180901 | |
| Central Core Disease | 117000 | |||
| Multiminicore Disease | 117000 | |||
| RYR2 | Catecholaminergic Polymorphic Ventricular Tachycardia | View | View | 180902 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| VAPB | Amyotrophic Lateral Sclerosis-8 / Spinal Muscular Atrophy, Autosomal Dominant, Adult-Onset | View | 607817 | |
| VCL | Hypertrophic Cardiomyopathy | 192600 | ||
| VPS13B (COH1) | Cohen Syndrome | View | 607817 |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| WAS | Wiskott-Aldrich Syndrome and Related Disorders |
| Gene | Tests Offered | Summary Statistics |
Reference List |
OMIM |
|---|---|---|---|---|
| ZIC2 | Holoprosencephaly-5 | View | 603073 | |
| ZMPSTE24 | Restrictive Dermopathy | View | 606480 | |
| Mandibuloacral Dysplasia | 606480 |


