Clinical DNA Tests

Clinical DNA Testing

Test Requisition (pdf format)

Test Requsition (Word format)

Price List (pdf format)

Price List (Word format)

New Test Development

CAP / CLIA Certificates

Tests Currently Offered By Gene

CLICK ON THE LINKS IN THE FOLLOWING LISTS FOR TEST DESCRIPTIONS AND TEST PRICES.

CPT Codes for each test are listed at the bottom of the Test Descriptions.

PreventionGenetics offers a steadily expanding menu of Clinical DNA tests. Our laboratory is CAP/CLIA certified. Please use the Requisition Form when ordering tests.

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- A -

ACADM Fatty Acid Oxidation Disorders
ACADS Fatty Acid Oxidation Disorders
ACADVL Fatty Acid Oxidation Disorders
AGL Glycogen Storage Disease, Type III
AHI1 Joubert Syndrome

- B -

BRAF Cardio-Facio-Cutaneous Syndrome

- C -

CCM2 Cavernous Malformations
CEP290 Joubert Syndrome
CFTR Cystic Fibrosis
CHD7 CHARGE Syndrome

- D -

DHCR7 Smith-Lemli-Opitz Syndrome
DLL3 Spondylocostal Dysostosis

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- F -

F2 Factor II (Prothrombin) G20210A Mutation Detection,Thrombophilia Panel
F5 Factor V (Leiden) G1691A Mutation Detection, Thrombophilia Panel
FCMD Fukuyama Congenital Muscular Dystrophy, Walker-Warburg Syndrome, Limb Girdle Muscular Dystrophy
FKRP Limb Girdle Muscular Dystrophy, Type 21; Congenital Muscular Dystrophy, Type 1C
FLT4 Hereditary Lymphedema, Type I (Milroy Disease)
FMR1 Fragile X Syndrome
FOXC2 Lymphedema/Distichiasis Syndrome, Hereditary Lymphedema, Type II

- G -

G6PC Glycogen Storage Diseases
GAA Glycogen Storage Diseases
GALT Galactosemia Testing
GATA1 Thrombocytopenia Testing
GBE1 Glycogen Storage Diseases
GCDH Glutaric Acidemia, Type I
GCH1 DOPA Responsive Dystonia
GLI3 Pallister-Hall Syndrome, Greig Cephalopolysyndactyly Syndrome, Postaxial Polydactyly A, Preaxial Polydactyly IV
GP1BA Bernard-Soulier Syndrome
GP1BB Bernard-Soulier Syndrome
GP9 Bernard-Soulier Syndrome
GYS2 Glycogen Storage Diseases

- H -

HMGCL HMG-CoA Lyase Deficiency
HRAS Costello Syndrome

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- I -

IVD Isovaleric Acidemia

- K -

KRAS Cardio-Facio-Cutaneous (CFC) Syndrome, Noonan Syndrome
KRIT1 (CCM1) Cavernous Malformations

- L -

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- M -

MAP2K1 Cardio-Facio-Cutaneous (CFC) Syndrome
MAP2K2 Cardio-Facio-Cutaneous (CFC) Syndrome
MASTL Thrombocytopenia Testing
MEK1 Cardio-Facio-Cutaneous (CFC) Syndrome
MEK2 Cardio-Facio-Cutaneous (CFC) Syndrome
MCCC1 3-Methylcrotonyl-CoA Carboxylase Deficiency
MCCC2 3-Methylcrotonyl-CoA Carboxylase Deficiency
MESP2 Spondylocostal Dysostosis
MKS1 Meckel-Gruber Syndrome
MKS3 Meckel-Gruber Syndrome
MPL Thrombocytopenia Testing
MTHFR C677T and A1298C Mutation Detection, Thrombophilia Panel
MUT Methylmalonic Acidemia Testing
MYH9 MYH9 -Related Disorders (May-Hegglin Anomalies, Epstein Syndrome, Fechtner Syndrome, Sebastian Syndrome, DNFA17)

- N -

NPHP1 Joubert Syndrome, Nephronophthisis 1

- P -

PAH Phenylketonuria/Phenylalanine Hydroxylase Deficiency
PCCA Propionic Acidemia
PCCB Propionic Acidemia
PDCD10 (CCM3) Cavernous Malformations
PFKM Glycogen Storage Disease
PHKA1 Glycogen Storage Disease
PHKA2 Glycogen Storage Disease
PHKG2 Glycogen Storage Disease
PKHD1 Autosomal Recessive Polycystic Kidney Disease
PNKD Paroxysmal Nonkinesigenic Dyskinesia
PYGL Glycogen Storage Disease
PYGM Glycogen Storage Disease
POMGNT1 Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
POMT1 Protein O-Mannosyltransferase 1
POMT2 Protein O-Mannosyltransferase 1
PTPN11 Noonan Syndrome, LEOPARD Syndrome

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- R -

RAF1 Noonan Syndrome, LEOPARD Syndrome
RUNX1 Familial Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia
RYR1 Central Core Disease, Malignant Hyperthermia Susceptibility, Multiminicore Disease
RYR2 Ventricular Tachycardia, Catecholaminergic Polymorphic, Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

- S -

SEPN1 SEPN1-Related Myopathies, Rigid Spine Muscular Dystrophy-1, Multiminicore Disease
SGCE Myoclonus-Dystonia Syndrome
SLC2A2 Fanconi-Bickel Syndrome (Glycogen Storage Disease, Type XI)
SLC37A4 Glycogen Storage Disease, Type Ib
SOS1 Noonan Syndrome

- T -

TOR1A Early Onset Primary Dystonia

- W -

WAS Wiskott-Aldrich Syndrome and Related Disorders

- Z -

ZMPSTE24 Lethal Tight Skin Contracture Syndrome (Restrictive Dermopathy), Mandibuloacral Dysplasia