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.

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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
ACADM Medium Chain Acyl-CoA Dehydrogenase Deficiency View View 607008
ACADS Short Chain Acyl-CoA Dehydrogenase Deficiency View View 606885
ACADVL Very Long Chain Acyl-CoA Dehydrogenase Deficiency View View 609575
ACTA1 alpha-Actin (Skeletal Muscle Form)-Related Myopathies View View
161800
ACTC1 Hypertrophic Cardiomyopathy and Related Disorders     102540
  Hypertrophic Cardiomyopathy Sequential Testing     102540
ACTN2 Hypertrophic Cardiomyopathy    
192600
ADAMTS13 Thrombocytopenia      
AGL Glycogen Storage Disease, Type III View View 610860
AGRN Familial Limb Girdle Myasthenic Syndrome     610285
AGRN Familial Limb Girdle Myasthenic Syndrome Panel     610285
AHI1 Joubert Syndrome View View 608894
  Joubert Syndrome Sequential Test     608894
ALG12 Congenital Disorders of Glycosylation, Type Ig   View 607143
ALG2 Congenital Disorders of Glycosylation, Type Ii   View 607906
ALG2 Panel 2: ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2   View 607906
ALG3 Congenital Disorders of Glycosylation, Type Id   View 608750
ALG3 Panel 2: ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2   View 608750
ALG6 Congenital Disorders of Glycosylation, Type Ic     604566
ALG6 Panel 1: PMM2, MPI, ALG6     604566
ALG8 Congenital Disorders of Glycosylation, Type Ih   View 608104
ALS2 Juvenile Amyotrophic Lateral Sclerosis   View 105400
ANG Amyotrophic Lateral Sclerosis, Autosomal Dominant or Sporadic   View 105400
ARG1 Argininemia   View 311250
ARL13B Joubert Syndrome   View 213300
ARSA Metachromatic Leukodystrophy   View 250100
ASS1 Citrullinemia, Type I   View 311250
ATP7B Wilson Disease/Hepatolenticular Degeneration   View 277900
AUH 3-Methylglutaconic Aciduria Type I     250950
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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
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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
CAPN3 Limb Girdle Muscular Dystrophy, Type 2A   View 114240
  Myositis, eosinophilic     114240
CAV3 Caveolinopathy Testing   View 601253
CC2D2A Joubert and Meckel-Gruber Syndromes   View 612013
CCM1 KRIT1/CCM1 Gene Sequencing   View 604214
  KRIT1/CCM1 "Common Hispanic" Mutation     604214
  CCM Sequential Test   View 604214>
CCM2 Cerebral Cavernous Malformations View View 607929
  CCM2 Exon 2-10 Deletion Test     607929
  CCM Sequential Test   View 604214
CCM3 PDCD10/CCM3 Gene Sequencing   View 603285
  CCM Sequential Test   View 604214
CEP290 Joubert Syndrome View View 610142
  Joubert Syndrome Sequential Test     610142
  Meckel-Gruber Syndrome     610142
CFTR Cystic Fibrosis and CBAVD Testing   View 602421
CHAT Congenital Myasthenic Syndrome with Episodic Apnea     608931
CHAT Congenital Myasthenic Syndrome Panel     608931
CHD7 CHARGE Syndrome View View 608892
CHRNA1 Congenital Myasthenic Syndrome Panel     608931
  Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome     100690
  Multiple Pterygium Syndromes     253290
CHRNB1 Congenital Myasthenic Syndrome Panel     608931
  Congenital Myasthenic Syndromes     100710
CHRND Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndromes     253290
  Congenital Myasthenic Syndrome Panel     608931
  Multiple Pterygium Syndromes     253290
CHRNE Congenital Myasthenic Syndrome     608931
  Congenital Myasthenic Syndrome Panel     608931
CHRNG Multiple Pterygium Syndromes     253290
CHRNG Multiple Pterygium Syndromes Panel     253290
CNGA1 Retinitis Pigmentosa, Autosomal Recessive   View 268000
CNGB1 Retinitis Pigmentosa, Autosomal Recessive   View 600724
COL6A1, COL6A2, COL6A3 Type 6 Collagenopathy Testing (Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy)   View 120220
COL18A1 Knobloch Syndrome, Type I   View 267750
COLQ Congenital Myasthenic Syndrome     608931
COLQ Congenital Myasthenic Syndrome Panel     608931
CPS1 Hyperammonemia   View 608307
CRB1 Leber Congenital Amaurosis and Retinitis Pigmentosa   View 604210
CRX Leber Congenital Amaurosis, Type VII   View 602225
CRYAB Myofibrillar Myopathy   View 123590
CSRP3 Hypertrophic Cardiomyopathy     600824
CUL4B Cabezas X-Linked Mental Retardation Syndrome   View 300304
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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
DAG1 Dystroglycan Testing   View 128239>
DCTN1 Distal Hereditary Motor Neuronopathy, Type VIIB   View 601143
DCTN1 Dynactin-Related Disorders   View 601143
DCTN1 Perry Syndrome   View 601143
DES Myofibrillar Myopathy   View 125660
DHCR7 Smith-Lemli-Opitz Syndrome View View 602858
DLL3 Spondylocostal Dysostosis View View 602768
  Spondylocostal Dysostosis Sequential Test     602768
DOK7 Familial Limb Girdle Myasthenia Syndrome   View 610285
DOK7/AGRN Familial Limb Girdle Myasthenic Syndrome   View 610285
DOK7 Pena-Shokeir Syndrome, Type 1 (Fetal Akinesia Deformation Sequence)   View 208150
DPM1 Congenital Disorders of Glycosylation, Type Ie (CDG Ie)   View 608799
DPM1 Panel 2: ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2   View 608799
DPM3 Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy   View; 605951
DRD2 Myoclonus-Dystonia Syndrome   View 126450
DSC2 Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia     107970
DSC2 Sequential Testing of Four Desmosomal Genes DSC2, DSG2, DSP, PKP2     125647
DSG2 Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia     107970
DSG2 Sequential Testing of Four Desmosomal Genes DSG2, DSP, DSC2, PKP2     125647
DSP Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and Related Disorders     125647
DSP Sequential Testing of Four Desmosomal Genes DSP, DSG2, DSC2, PKP2     125647
DYSF Limb Girdle Muscular Dystrophy, Type 2B   View 603009
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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
EIF2B1-EIF2B5 Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy   View 603896
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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
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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
G6PC Glycogen Storage Disease, Type Ia View View 232200
GAA Glycogen Storage Disease, Type II View View 606800
GALC Krabbe Disease View View 606890
GALC Krabbe Disease - GALC Deletion Test View View 606890
GALT Galactosemia View View 606999
GARS Charcot-Marie-Tooth Disease, Type 2D   View 600287
GARS Distal Hereditary Motor Neuronopathy, Type V   View 600287
GARS Glycyl tRNA Synthetase-Related Disorders   View 600287
GATA1 Thrombocytopenia   View 305371
GBA Gaucher Disease     606463
GBE1 Glycogen Storage Disease, Type IV View View 607839
GCDH Glutaric Acidemia View View 608801
GCH1 DOPA Responsive Dystonia   View 600225
GDF6 Klippel-Feil Syndrome via GDF6    Gene Sequencing   View 601147
GLA Fabry Disease   View 301500
GLB1 GM1 Gangliosidosis and Morquio Syndrome Type B via GLB1    Gene Sequencing   View 611458
GLI2 Holoprosencephaly-9 (Autosomal Dominant, Nonsyndromic)     165230
GLI3 Pallister-Hall Syndrome, Greig Cephalopolysyndactyly Syndrome, Postaxial Polydactyly A, Preaxial Polydactyly IV View View 165240
GLIS2 Nephronophthisis     608539
GM2A Tay-Sachs Disease AB Variant/GM2-Gangliosidosis Variant AB     272750
GNE Inclusion Body Myopathy-2, Autosomal Recessive and Nonaka Myopathy   View 147421
GNE Sialuria, Exon 5 Sequencing     269921
GNPTAB Mucolipidosis II & Mucolipidosis III Alpha/Beta     252500
GNPTG Mucolipidosis III Gamma     252605
GP1BA Bernard-Soulier Syndrome   View 606672
  Bernard-Soulier Sequential(GP1BA, GP1BB, GP9)   View 606672
GP1BB Bernard-Soulier Syndrome   View 138720
GP9 Bernard-Soulier Syndrome   View 173515
GPC3 Simpson-Golabi-Behmel Syndrome View View 300037
GYS2 Glycogen Storage Disease, Type 0 View View 138571
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- H -

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
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- I -

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
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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
JAG1 Alagille Syndrome   View 601920
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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
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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
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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
MAP2K1 Cardio-Facio-Cutaneous Syndrome     176872
MAP2K2 Cardio-Facio-Cutaneous Syndrome     601263
MASTL Thrombocytopenia View View 608221
MATR3 Distal Myopathy 2   View 164015
MCCC1 3-Methylcrotonyl-CoA Carboxylase Deficiency View View 609010
MCCC2 3-Methylcrotonyl-CoA Carboxylase Deficiency View View 609014
MEK1 Cardio-Facio-Cutaneous Syndrome     176872
MEK2 Cardio-Facio-Cutaneous Syndrome     601263
MESP2 Spondylocostal Dysostosis View View 605195
  Spondylocostal Dysostosis Sequential Testing     605195
  Spondylothoracic Dysostosis     605195
  Jarcho-Levin Syndrome     605195
MKS1 Meckel-Gruber Syndrome Testing View View 609883
MKS3 Joubert and Meckel-Gruber Syndrome   View 609884
  Joubert Syndrome Sequential Evaluation     609884
MMAA Methylmalonic Acidemia (cblA type)   View 607481
  Methylmalonic Acidemia Sequential Testing   View 607481
MMAB Methylmalonic Acidemia (cblB type)   View 607568
  Methylmalonic Acidemia Sequential Testing   View 607568
MPDU1 Congenital Disorders of Glycosylation, Type If (CDG If)   View 609180
MPDU1 Panel 2: ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2   View 609180
MPI Congenital Disorders of Glycosylation, Type Ib     154550
MPI Panel 1: PMM2, MPI, ALG6     154550
MPL Congenital Amegakaryocytic Thrombocytopenia View View 159530
MUSK Congenital Myasthenic Syndrome     608931
MUSK Congenital Myasthenic Syndrome Panel     608931
MUT Methylmalonic Acidemia   View 251000
  Methylmalonic Acidemia Sequential Testing   View 251000
MYBPC3 Hypertrophic Cardiomyopathy     600958
  Hypertrophic Cardiomyopathy Sequential Testing     600958
MYH2 Inclusion Body Myopathy-3, Autosomal Dominant   View 605637
MYH3 MYH3-Related Distal Arthrogryposis Syndromes     160720
MYH6 Hypertrophic Cardiomyopathy     160710
MYH7 Hypertrophic Cardiomyopathy and other MYH7-Related Disorders     160760
  Hypertrophic Cardiomyopathy Sequential Testing     160760
MYH9 MYH9-Related Disorders View View 160775
  Thrombocytopenia     160775
MYL2 Hypertrophic Cardiomyopathy     160781
  Hypertrophic Cardiomyopathy Sequential Testing     160781
MYL3 Hypertrophic Cardiomyopathy   View 160781
  Hypertrophic Cardiomyopathy Sequential Testing   View 160781
MYOT/TTID Myotilinopathy Testing, Limb Girdle Muscular Dystrophy, Type 1A (LGMD1A), Myotilin-Related Myofibrillar Myopathy     604103
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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
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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
OTC Hyperammonemia View View 30046
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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
PAH Phenylalanine Hydroxylase Deficiency View View 261600
PCCA Propionic Acidemia View View 232000
  Propionic Acidemia Sequential Testing   View 232000
PCCB Propionic Acidemia View View 232050
  Propionic Acidemia Sequential Testing   View 232050
PDCD10 (CCM3) Cerebral Cavernous Malformations View View 609118
  CCM Sequential Test     604214
PDE6A Retinitis Pigmentosa, Autosomal Recessive   View 268000
PDE6B Retinitis Pigmentosa, Autosomal Recessive and Congenital Stationary Night Blindness   View 268000
PFKM Glycogen Storage Disease, Type VII (Tarui Disease) View View 610681
PHKA1 Glycogen Storage Disease, Type IX View View 311870
PHKA2 Glycogen Storage Disease, Type IX View View 306000
PHKB Glycogen Storage Disease, Type IX   View 172490
PHKG2 Glycogen Storage Disease, Type IX View View 172471
PKHD1 Autosomal Recessive Polycystic Kidney Disease   View 606702
PKP2 Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia     107970
PKP2 Sequential Testing of Four Desmosomal Genes PKP2, DSG2, DSP, DSC2     125647
PMM2 Congenital Disorders of Glycosylation, Type Ia   View 601785
PMM2 Panel 1: PMM2, MPI, ALG6   View 601785
PNKD Paroxysmal Nonkinesigenic Dyskinesia View View 609023
POMGNT1 Muscle-Eye-Brain Disease View View 606822
  Walker-Warburg Syndrome     606822
POMT1 Walker-Warburg Syndrome View View 607423
  Limb-Girdle Muscular Dystrophy, Type 2K     607423
POMT2 Walker-Warburg Syndrome View 607439
  Muscle-Eye-Brain Disease   View 607439
PRPF3 Retinitis Pigmentosa (Autosomal Dominant or Sporadic, Nonsyndromic)   View 607301
PRPF8 Retinitis Pigmentosa (Autosomal Dominant, Nonsyndromic)   View 607300
PRPF31 Retinitis Pigmentosa (Autosomal Dominant and Sporadic, Nonsyndromic)   View 179605
PRPH2 Retinitis Pigmentosa (Autosomal Dominant, Nonsyndromic)   View 179605
PSAP Metachromatic Leukodystrophy     176801
PTCH1 Holoprosencephaly-7 (Autosomal Dominant, Nonsyndromic)   View 601309
PTPN11 Noonan Syndrome View View 176876
  Noonan Syndrome Sequential   View 176876
  LEOPARD Syndrome   View 176876
PYGL Glycogen Storage Disease, Type VI View View 232700
PYGM Glycogen Storage Disease, Type V (McArdle Disease) View   608455

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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

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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
SEPN1 Rigid Spine Muscular Dystrophy-1 View View 606210
  Multiminicore Disease (MmD)     606210
SETX Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type-4     602433
SGCA Limb Girdle Muscular Dystrophy, Type 2D     600119
SGCB Limb Girdle Muscular Dystrophy, Type 2E     600900
SGCE Myoclonus-Dystonia Syndrome View   604149
SGCG Limb Girdle Muscular Dystrophy, Type 2C     608896
SHH Holoprosencephaly-3 (Autosomal Dominant, Nonsyndromic)   View 236100
SIX3 Holoprosencephaly-2 (Autosomal Dominant, Nonsyndromic)   View 603714
SLC2A2 Fanconi-Bickel Syndrome (Glycogen Storage Disease, Type XI) View   138160
SLC37A4 Glycogen Storage Disease, Type Ib View    
SLC9A6 Christianson Type X-Linked Mental Retardation   View 300231
SOD1 Amyotrophic Lateral Sclerosis / Motor Neuron Disease (Autosomal Dominant)   View 147450
SOD1 Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS Panel)   View 147450
SOS1 Noonan Syndrome View   182530
  Noonan Syndrome Sequential Testing     182530
SOX18 Lymphedema with Hypotrichosis and Telangiectasia   View 601618
SPRED1 Neurofibromatosis Type 1-Like Syndrome     609291
SUMF1 Multiple Sulfatase Deficiency / Mucosulfatidosis     607939
SYNE1 Synaptic Nuclear Envelope Protein-1 Related Disorders   View 610743

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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
TARDBP Amyotrophic Lateral Sclerosis / Motor Neuron Disease   View 105400
TARDBP Amyotrophic Lateral Sclerosis / Motor Neuron Disease (ALS Panel)   View 105400
TCAP Telethoninopathy Testing     604488
TGIF1 Holoprosencephaly-4 (Autosomal Dominant, Nonsyndromic)   View  
TMEM216 Joubert Syndrome     213300
TMEM67 Joubert and Meckel-Gruber Syndromes View   609884
  Joubert Syndrome Sequential Test     607100
TNNI2 Distal Arthrogryposis 2B (Sheldon-Hall Syndrome)   View 191043
TNNI3 Hypertrophic Cardiomyopathy and Related Disorders     192600
TNNT1 Nemaline Myopathy 5 (Amish Nemaline Myopathy)     191041
TNNT2 Hypertrophic Cardiomyopathy and Related Disorders     192600
TNNT3 Distal Arthrogryposis 2B (Sheldon-Hall Syndrome)     600692
TOR1A Early-Onset Primary Dystonia     605204
TPM1 Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy   View 115196
TPM2 Tropomyosin 2-Related Disorders     190990
TPM3 Tropomyosin 3-Related Myopathies View View 191030
TTID/MYOT Myotilinopathy Testing, Limb Girdle Muscular Dystrophy, Type 1A (LGMD1A), Myotilin-Related Myofibrillar Myopathy     604103
TTN Limb Girdle Muscular Dystrophy, Type 2J and Tibial Muscular Dystrophy     188840
TULP1 Retinitis Pigmentosa and Leber Congenital Amaurosis   View 268000

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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

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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
WAS Wiskott-Aldrich Syndrome and Related Disorders      
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Gene Tests Offered Summary
Statistics		 Reference
List 		OMIM
ZIC2 Holoprosencephaly-5   View 603073
ZMPSTE24 Restrictive Dermopathy View   606480
  Mandibuloacral Dysplasia     606480