Clinical DNA Tests

PreventionGenetics offers a steadily expanding menu of Clinical DNA tests. Our laboratory is CAP/CLIA certified. 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.

Tests Offered By Gene

- A -

Gene	Tests Offered	OMIM
*ACADM*	Medium Chain Acyl-CoA Dehydrogenase Deficiency	607008
*ACADS*	Short Chain Acyl-CoA Dehydrogenase Deficiency	606885
*ACADVL*	Very Long Chain Acyl-CoA Dehydrogenase Deficiency	609575
*AGL*	Glycogen Storage Disease, Type III	610860
*AHI1*	Joubert Syndrome	608894
	Joubert Syndrome Sequential Test	608894
*ALG6*	Congenital Disorders of Glycosylation, Type Ic	604566
*ARG1*	Argininemia	608313
*ASS1*	Citrullinemia

- B -

Gene	Tests Offered	OMIM
*BRAF*	Cardio-Facio-Cutaneous (CFC) Syndrome	164757
*BTD*	Multiple Carboxylase Deficiency (Juvenile Onset)	609019

- C -

Gene	Tests Offered	OMIM
*CAPN3*	Limb Girdle Muscular Dystrophy, Type 2A	114240
	Myositis, eosinophilic	114240
*CCM1*	KRIT1/CCM1 Gene Sequencing	604214
	KRIT1/CCM1 "Common Hispanic" Mutation	604214
	CCM Sequential Test	604214
*CCM2*	Cerebral Cavernous Malformations	607929
	CCM2 Exon 2-10 Deletion Test	607929
	CCM Sequential Test	604214
*CCM3*	PDCD10/CCM3 Gene Sequencing	603285
	CCM Sequential Test	604214
*CEP290*	Joubert Syndrome	610142
	Joubert Syndrome Sequential Test	610142
	Meckel-Gruber Syndrome	610142
*CFTR*	Cystic Fibrosis and CBAVD Testing	602421
*CHD7*	CHARGE Syndrome	608892
*CPS1*	Hyperammonemia	608307
*CUL4B*	Cabezas X-Linked Mental Retardation Syndrome	300304

- D -

Gene	Tests Offered	OMIM
*DHCR7*	Smith-Lemli-Opitz Syndrome	602858
*DLL3*	Spondylocostal Dysostosis	602768
	Spondylocostal Dysostosis Sequential Test	602768
*DYSF*	Limb Girdle Muscular Dystrophy, Type 2B	603009

- F -

Gene	Tests Offered	OMIM
F2	Factor II (Prothrombin) G20210A Mutation Detection,Thrombophilia Panel	176930
F5	Factor V (Leiden) G1691A Mutation Detection, Thrombophilia Panel	227400
*FAH*	Tyrosinemia, Type I	276700
*FKRP*	Limb Girdle Muscular Dystrophy, Type 21	606596
	Congenital Muscular Dystrophy, Type 1C	606596
*FKTN*	Fukuyama Congenital Muscular Dystrophy, Walker-Warburg Syndrome, Limb Girdle Muscular Dystrophy	607440
	Walker-Warburg Syndrome	607440
	Limb Girdle Muscular Dystrophy	607440
	Japanese Founder Mutation PCR	607440
*FLT4*	Hereditary Lymphedema, Type I (Milroy Disease)	136352
*FOXC2*	Lymphedema/Distichiasis Syndrome, Hereditary Lymphedema, Type II	602402

- G -

Gene	Tests Offered	OMIM
*G6PC*	Glycogen Storage Disease, Type Ia	232200
*GAA*	Glycogen Storage Disease, Type II	606800
*GALT*	Galactosemia	606999
*GATA1*	Thrombocytopenia	305371
*GBE1*	Glycogen Storage Disease, Type IV	607839
*GCDH*	Glutaric Acidemia	608801
*GCH1*	DOPA Responsive Dystonia	600225
*GLI3*	Pallister-Hall Syndrome, Greig Cephalopolysyndactyly Syndrome, Postaxial Polydactyly A, Preaxial Polydactyly IV	165240
*GP1BA*	Bernard-Soulier Syndrome	606672
*GP1BB*	Bernard-Soulier Syndrome	138720
*GP9*	Bernard-Soulier Syndrome	173515
*GYS2*	Glycogen Storage Disease, Type 0	138571

- H -

Gene	Tests Offered	OMIM
*HLCS*	Multiple Carboxylase Deficiency	609018
*HMGCL*	HMG-CoA Lyase Deficiency	246450
*HRAS*	Costello Syndrome	190020

- I -

Gene	Tests Offered	OMIM
*IVD*	Isovaleric Acidemia	607036

- K -

Gene	Tests Offered	OMIM
*KRAS*	Cardio-Facio-Cutaneous Syndrome	190070
	Noonan, CFC and Costello Syndromes	190070
*KRIT1(CCM1)*	KRIT1/CCM1 Gene Sequencing	604214
	KRIT1/CCM1 "Common Hispanic" Mutation	604214
	CCM Sequential Test	604214

- L -

Gene	Tests Offered	OMIM
*LAMA2*	Merosin-Deficient Congenital Muscular Dystrophy	156225
*LARGE*	Walker-Warburg Syndrome	603590
	Congenital Muscular Dystrophy, Type 1D	603590
*LFNG*	Spondylocostal Dysostosis	602576
	Spondylocostal Dysostosis Sequential Test	602576
*LMNA*	Hutchinson-Gilford Progeria Syndrome	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

- M -

Gene	Tests Offered	OMIM
*MAP2K1*	Cardio-Facio-Cutaneous Syndrome	176872
*MAP2K2*	Cardio-Facio-Cutaneous Syndrome	601263
*MASTL*	Thrombocytopenia	608221
*MCCC1*	3-Methylcrotonyl-CoA Carboxylase Deficiency	609010
*MCCC2*	3-Methylcrotonyl-CoA Carboxylase Deficiency	609014
*MEK1*	Cardio-Facio-Cutaneous Syndrome	176872
*MEK2*	Cardio-Facio-Cutaneous Syndrome	601263
*MESP2*	Spondylocostal Dysostosis	605195
	Spondylocostal Dysostosis Sequential Testing	605195
	Spondylothoracic Dysostosis	605195
	Jarcho-Levin Syndrome	605195
*MKS1*	Meckel-Gruber Syndrome Testing	609883
*MKS3*	Joubert and Meckel-Gruber Syndrome	609884
	Joubert Syndrome Sequential Evaluation	609884
*MMAA*	Methylmalonic Acidemia (cblA type)	607481
	Methylmalonic Acidemia Sequential Testing	607481
*MMAB*	Methylmalonic Acidemia (cblB type)	607568
	Methylmalonic Acidemia Sequential Testing	607568
*MPI*	Congenital Disorders of Glycosylation, Type Ib	154550
*MPL*	Congenital Amegakaryocytic Thrombocytopenia	159530
*MUT*	Methylmalonic Acidemia	251000
	Methylmalonic Acidemia Sequential Testing	251000
*MYH9*	MYH9-Related Disorders	160775
	Thrombocytopenia	160775

- N -

Gene	Tests Offered	OMIM
*NAGS*	Hyperammonemia	608300
*NEB*	Nemaline Myopathy	161650
	Ashkenazi Jewish Mutation Exon 55 Deletion Test	161650
*NPHP1*	NPHP1 Homozygous Deletion Testing for Joubert Syndrome and Nephronophthisis	607100
	Joubert Syndrome Sequential Test	607100

- O -

Gene	Tests Offered	OMIM
*OTC*	Hyperammonemia	300461

- P -

Gene	Tests Offered	OMIM
*PAH*	Phenylalanine Hydroxylase Deficiency	261600
*PCCA*	Propionic Acidemia	232000
	Propionic Acidemia Sequential Testing	232000
*PCCB*	Propionic Acidemia	232050
	Propionic Acidemia Sequential Testing	232050
*PDCD10 (CCM3)*	Cerebral Cavernous Malformations	609118
	CCM Sequential Test	604214
*PFKM*	Glycogen Storage Disease, Type VII (Tarui Disease)	610681
*PHKA1*	Glycogen Storage Disease, Type IX	311870
*PHKA2*	Glycogen Storage Disease, Type IX	306000
*PHKG2*	Glycogen Storage Disease, Type IX	172471
*PKHD1*	Autosomal Recessive Polycystic Kidney Disease	606702
*PMM2*	Congenital Disorders of Glycosylation, Type Ia	601785
*PNKD*	Paroxysmal Nonkinesigenic Dyskinesia	609023
*POMGNT1*	Muscle-Eye-Brain Disease	606822
	Walker-Warburg Syndrome	606822
*POMT1*	Walker-Warburg Syndrome	607423
	Limb-Girdle Muscular Dystrophy, Type 2K	607423
*POMT2*	Walker-Warburg Syndrome	607439
	Muscle-Eye-Brain Disease	607439
*PTPN11*	Noonan Syndrome	176876
	Noonan Syndrome Sequential	176876
	LEOPARD Syndrome	176876
*PYGL*	Glycogen Storage Disease, Type VI	232700
*PYGM*	Glycogen Storage Disease, Type V (McArdle Disease)	608455

- R -

Gene	Tests Offered	OMIM
*RAF1*	Noonan and Leopard Syndromes	164760
	Noonan Syndrome Sequential Testing	164760
*RUNX1*	Familial Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia	151385
*RYR1*	Malignant Hyperthermia Susceptibility	180901
	Central Core Disease	117000
	Multiminicore Disease	117000
*RYR2*	Catecholaminergic Polymorphic Ventricular Tachycardia	180902

- S -

Gene	Tests Offered	OMIM
*SEPN1*	Rigid Spine Muscular Dystrophy-1	606210
	Multiminicore Disease (MmD)	606210
*SGCA*	Limb Girdle Muscular Dystrophy, Type 2D	600119
*SGCB*	Limb Girdle Muscular Dystrophy, Type 2E	600900
*SGCE*	Myoclonus-Dystonia Syndrome	604149
*SLC2A2*	Fanconi-Bickel Syndrome (Glycogen Storage Disease, Type XI)	138160
*SLC37A4*	Glycogen Storage Disease, Type Ib
*SOS1*	Noonan Syndrome	182530
	Noonan Syndrome Sequential Testing	182530

- T -

Gene	Tests Offered	OMIM
*TMEM67*	Joubert and Meckel-Gruber Syndrome	609884
	Joubert Syndrome Sequential Test	607100
*TOR1A*	Early-Onset Primary Dystonia	605204
*TPM3*	Tropomyosin 3-Related Myopathies	191030

- W -

Gene	Tests Offered	OMIM
*WAS*	Wiskott-Aldrich Syndrome and Related Disorders

- Z -

Gene	Tests Offered	OMIM
*ZMPSTE24*	Restrictive Dermopathy	606480
	Mandibuloacral Dysplasia	606480