A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Gene	Sequencing Tests	Del/Dup Tests	OMIM
ABCA4	Stargardt Disease, Autosomal Recessive	aCGH	601691
ABCC9	Dilated Cardiomyopathy	aCGH	601439
ACADM	Medium Chain Acyl-CoA Dehydrogenase Deficiency	aCGH	607008
ACADS	Short Chain Acyl-CoA Dehydrogenase Deficiency	aCGH	606885
ACADVL	Very Long Chain Acyl-CoA Dehydrogenase Deficiency	aCGH	609575
ACTA1	alpha-Actin (Skeletal Muscle Form)-Related Myopathies	aCGH	161800
ACTC1	Hypertrophic Cardiomyopathy and Related Disorders	aCGH	102540
	Hypertrophic Cardiomyopathy Sequential Testing	aCGH	102540
ACTN2	Hypertrophic Cardiomyopathy	aCGH	192600
ACVRL1/ALK1	Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2)/Osler-Weber-Rendu Disease	aCGH	187300
ACVR2B	Heterotaxy, Visceral 4 (HTX4)	aCGH	613751
ADAMTS13	Thrombotic Thrombocytopenia Purpura (TTP)	aCGH	274150
ADSL	Adenylosuccinase Gene Sequencing	aCGH	608222
AGL	Glycogen Storage Disease, Type III	aCGH	610860
AGPAT2	Congenital Generalized Lipodystrophy, Type 1	aCGH	608954
AGRN	Familial Limb Girdle Myasthenic Syndrome	aCGH	610285
AGRN	Familial Limb Girdle Myasthenic Syndrome Panel	aCGH	610285
AHI1	Joubert Syndrome	aCGH	608894
	Joubert Syndrome Sequential Test	aCGH	608894
ALG12	Congenital Disorders of Glycosylation, Type Ig	aCGH	607143
ALG2	Congenital Disorders of Glycosylation, Type Ii	aCGH	607906
ALG2	Panel 2: ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2	aCGH	607906
ALG3	Congenital Disorders of Glycosylation, Type Id	aCGH	608750
ALG3	Panel 2: ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2	aCGH	608750
ALG6	Congenital Disorders of Glycosylation, Type Ic	aCGH	604566
ALG6	Panel 1: PMM2, MPI, ALG6	aCGH	604566
ALG8	Congenital Disorders of Glycosylation, Type Ih	aCGH	608104
ALK1/ACVRL1	Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2)/Osler-Weber-Rendu Disease	aCGH	187300
ALMS1	Alstrom Syndrome	aCGH	203800
ALPL	Hypophosphatasia	aCGH	241500
ALS2	Juvenile Amyotrophic Lateral Sclerosis	aCGH	105400
ANG	Amyotrophic Lateral Sclerosis, Autosomal Dominant or Sporadic	aCGH	105400
AN05/TMEM16E	Limb Girdle Muscular Dystrophy, Type 2L (LGMD2L) and Distal Miyoshi Myopathy (MMD3)	aCGH	608622
AP3B1	Hermansky-Pudlak Syndrome Type 2 (HPS2)	aCGH	203300
APC	Familial Adenomatous Polyposis	aCGH	611731
AR	Androgen Insensitivity Syndrome	aCGH	313700
ARG1	Argininemia	aCGH	311250
ARL6/BBS3	Bardet-Biedl Syndrome	aCGH	209900
ARL13B	Joubert Syndrome	aCGH	213300
	Joubert Syndrome Sequential Test	aCGH	213300
ARSA	Metachromatic Leukodystrophy	aCGH	250100
	Metachromatic Leukodystrophy Panel	aCGH	250100
ARSB	Mucopolysaccharidosis Type VI / Maroteaux-Lamy Syndrome	aCGH	611542
ARSE	Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1)		302950
ARX	X-Linked Lissencephaly-2	aCGH	300382
ASAH1	Farber Lipogranulomatosis	aCGH	311250
ASS1	Citrullinemia, Type I	aCGH	311250
ATP7A	Menkes Disease and Hereditary Motor Neuropathy, X-Linked	aCGH	309400
ATP7B	Wilson Disease/Hepatolenticular Degeneration	aCGH	277900
AUH	3-Methylglutaconic Aciduria Type I	aCGH	250950
AURKC	Male Infertility with Large-Headed Spermatozoa	aCGH	243060
AXIN2	Oligodontia-Colorectal Cancer	aCGH	604025

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- B -

Gene	Tests Offered	Del/Dup Tests	OMIM
BAG3	Childhood Onset Muscular Dystrophy with Myofibrillar Myopathy	aCGH	603883
BBS1	Bardet-Biedl Syndrome	aCGH	209900
BBS2	Bardet-Biedl Syndrome	aCGH	209900
BBS3/ARL6	Bardet-Biedl Syndrome	aCGH	209900
BBS4	Bardet-Biedl Syndrome	aCGH	209900
BBS5	Bardet-Biedl Syndrome	aCGH	209900
BBS6/MKKS	Bardet-Biedl Syndrome	aCGH	209900
BBS7	Bardet-Biedl Syndrome	aCGH	209900
BBS8/TTC8	Bardet-Biedl Syndrome	aCGH	209900
BBS9	Bardet-Biedl Syndrome	aCGH	209900
BBS10	Bardet-Biedl Syndrome	aCGH	209900
BBS11/TRIM32	Bardet-Biedl Syndrome	aCGH	209900
BBS12	Bardet-Biedl Syndrome	aCGH	209900
BCKDHA	Maple Syrup Urine Disease Type IA	aCGH	248600
	Maple Syrup Urine Disease Sequencing Panel	aCGH	248600
BCKDHB	Maple Syrup Urine Disease Type IB	aCGH	248600
	Maple Syrup Urine Disease Sequencing Panel	aCGH	248600
BLM	Bloom's Syndrome	aCGH	210900
BLOC1S3	Hermansky-Pudlak Syndrome Type 8 (HPS8)	aCGH	203300
BMP15	Ovarian Dysgenesis 2	aCGH	300247
BMPR1A	Juvenile Polyposis Syndrome (JPS)		601299
BMPR2	Primary Pulmonary Hypertension (PPH1)/Pulmonary Arterial Hypertension (PAH)	aCGH	600799
BRAF	Cardio-Facio-Cutaneous (CFC) Syndrome	aCGH	164757
BRIP1/FANCJ	Fanconi Anemia	aCGH	227650
BSCL2	Seipin-Related Disorders	aCGH	606158
BTD	Multiple Carboxylase Deficiency (Juvenile Onset)	aCGH	609019

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Gene	Tests Offered	Del/Dup Tests	OMIM
C14orf104/KTU	Primary Ciliary Dyskinesia (PCD)	aCGH	612517
C20orf54	Progressive Bulbar Palsy With or Without Sensorineural Deafness (Brown-Vialetto-van Laere Syndrome and Fazio-Londe Disease)		613350
CAPN3	Limb Girdle Muscular Dystrophy, Type 2A	aCGH	114240
	Myositis, eosinophilic	aCGH	114240
CAV3	Caveolinopathy Testing	aCGH	601253
CC2D2A	Joubert and Meckel-Gruber Syndromes	aCGH	612013
	Joubert Syndrome Sequential Test	aCGH	612013
	Meckel-Gruber Syndrome Sequencing Panel	aCGH	612013
CCBE1	Hennekam Lymphangiectasia-Lymphedema Syndrome	aCGH	612753
CCDC39	Primary Ciliary Dyskinesia (PCD)		244400
CCDC40	Primary Ciliary Dyskinesia (PCD)		244400
CCM1	KRIT1/CCM1 Gene Sequencing	aCGH	604214
	KRIT1/CCM1 "Common Hispanic" Mutation	aCGH	604214
	CCM Sequential Test	aCGH	604214
CCM2	Cerebral Cavernous Malformations	aCGH	607929
	CCM2 Exon 2-10 Deletion Test	aCGH	607929
	CCM Sequential Test	aCGH	604214
CCM3	PDCD10/CCM3 Gene Sequencing	aCGH	603285
	CCM Sequential Test	aCGH	604214
CDH23	Usher Syndrome Type 1	aCGH	276900
CDKN1B	Multiple Endocrine Neoplasia Type 1	aCGH	600778
CEP290	Joubert Syndrome	aCGH	610142
	Joubert Syndrome Sequential Test	aCGH	610142
	Meckel-Gruber Syndrome	aCGH	610142
	Meckel-Gruber Syndrome Sequencing Panel	aCGH	610142
CFL2	Nemaline Myopathy 7 Skeletal Muscle Cofilin-2 Sequencing	aCGH	601443
CFTR	Cystic Fibrosis and CBAVD Testing	aCGH	602421
CHAT	Congenital Myasthenic Syndrome with Episodic Apnea	aCGH	608931
CHAT	Congenital Myasthenic Syndrome Panel	aCGH	608931
CHEK2	Hereditary Breast Cancer		604373
CHD7	CHARGE Syndrome	aCGH	608892
CHRNA1	Congenital Myasthenic Syndrome Panel	aCGH	608931
	Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome	aCGH	100690
	Multiple Pterygium Syndromes	aCGH	253290
CHRNB1	Congenital Myasthenic Syndrome Panel	aCGH	608931
	Congenital Myasthenic Syndromes	aCGH	100710
CHRND	Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndromes	aCGH	253290
	Congenital Myasthenic Syndrome Panel	aCGH	608931
	Multiple Pterygium Syndromes	aCGH	253290
CHRNE	Congenital Myasthenic Syndrome	aCGH	608931
	Congenital Myasthenic Syndrome Panel	aCGH	608931
CHRNG	Multiple Pterygium Syndromes	aCGH	253290
CHRNG	Multiple Pterygium Syndromes Panel	aCGH	253290
CLRN1	Usher Syndrome Type 3	aCGH	276902
CNGA1	Retinitis Pigmentosa, Autosomal Recessive		268000
CNGA3	Achromatopsia	aCGH	600053
CNGB1	Retinitis Pigmentosa, Autosomal Recessive	aCGH	600724
CNGB3	Achromatopsia	aCGH	605080
COL10A1	Metaphyseal Chondrodysplasia, Schmid Type (MCDS)		156500
COL11A1	Stickler Syndrome		154780
COL11A2	Stickler Syndrome, Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome and Deafness, Autosomal Dominant 13		184840
COL2A1	Achondrogenesis Type II (ACG2)-Hypochondrogenesis	aCGH	120140
COL2A1	Kniest Dysplasia	aCGH	120140
COL2A1	Osteoarthritis with Mild Chondrodysplasia	aCGH	604864
COL2A1	Spondyloepiphyseal Dysplasia, Congenita (SEDc) and Spondylometaepiphyseal Dysplasia, Strudwick Type (SEMD)	aCGH	183900
COL2A1	Spondyloperipheral Dysplasia (SPD) and Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (PLSDT)	aCGH	271700
COL2A1	Stickler Syndrome, Type 1 (STL1)	aCGH	108300
COL3A1	Ehlers-Danlos Syndrome, Type IV		130050
COL5A1	Ehlers-Danlos Syndrome		130010
COL5A2	Ehlers-Danlos Syndrome		130010
COL6A1, COL6A2, COL6A3	Type 6 Collagenopathy Testing (Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy)	aCGH	120220
COL18A1	Knobloch Syndrome, Type I	aCGH	267750
COL9A1	Stickler Syndrome, Autosomal Recessive	aCGH	120210
	Multiple Epiphyseal Dysplasia Panel	aCGH	226900
COL9A2	Multiple Epiphyseal Dysplasia	aCGH
	Multiple Epiphyseal Dysplasia Panel	aCGH	226900
COL9A3	Multiple Epiphyseal Dysplasia	aCGH
	Multiple Epiphyseal Dysplasia Panel	aCGH	226900
COLQ	Congenital Myasthenic Syndrome	aCGH	608931
COLQ	Congenital Myasthenic Syndrome Panel	aCGH	608931
COMP	Pseudoachondroplasia (PSACH) and Multiple Epiphyseal Dysplasia (MED)	aCGH	117170
	Multiple Epiphyseal Dysplasia Panel	aCGH	226900
CPS1	Hyperammonemia	aCGH	608307
CRB1	Leber Congenital Amaurosis and Retinitis Pigmentosa	aCGH	604210
CRX	Leber Congenital Amaurosis, Type VII	aCGH	602225
CRYAB	Myofibrillar Myopathy	aCGH	123590
CSRP3	Hypertrophic Cardiomyopathy	aCGH	600824
CTSC	Papillon-Lefevre Syndrome (PLS)	aCGH	245000
CUL4B	Cabezas X-Linked Mental Retardation Syndrome	aCGH	300304
CUL7	3-M Syndrome	aCGH	273750

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Gene	Tests Offered	Del/Dup Tests	OMIM
DAG1	Dystroglycan Testing	aCGH	128239
	Dystroglycan-Related Muscular Dystrophy Sequential Testing	aCGH	128239
DBT	Maple Syrup Urine Disease Type II	aCGH	248600
	Maple Syrup Urine Disease Sequencing Panel	aCGH	248600
DCTN1	Distal Hereditary Motor Neuronopathy, Type VIIB	aCGH	601143
DCTN1	Dynactin-Related Disorders	aCGH	601143
DCTN1	Perry Syndrome	aCGH	601143
DCX	Classic lissencephaly	aCGH	300076
DDR2	Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL)	aCGH	191311
DES	Myofibrillar Myopathy	aCGH
DFNB31	Usher Syndrome, Type 2 and Nonsyndromic Hearing Loss	aCGH	276901
DLD	Maple Syrup Urine Disease Type III	aCGH	248600
DHCR7	Smith-Lemli-Opitz Syndrome	aCGH	602858
DLL3	Spondylocostal Dysostosis	aCGH	602768
	Spondylocostal Dysostosis Sequential Test	aCGH	602768
DNAH5	Primary Ciliary Dyskinesia (PCD)	aCGH	603335
DNAH11	Primary Ciliary Dyskinesia (PCD)	aCGH	603339
DNAI1	Primary Ciliary Dyskinesia (PCD)	aCGH	604366
DNAI2	Primary Ciliary Dyskinesia (PCD)	aCGH	605483
DNAL1	Primary Ciliary Dyskinesia (PCD)	aCGH	605483
DOK7	Familial Limb Girdle Myasthenia Syndrome	aCGH	610285
DOK7/AGRN	Familial Limb Girdle Myasthenic Syndrome	aCGH	610285
DOK7	Pena-Shokeir Syndrome, Type 1 (Fetal Akinesia Deformation Sequence)	aCGH	208150
DPM1	Congenital Disorders of Glycosylation, Type Ie (CDG Ie)	aCGH	608799
DPM1	Panel 2: ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2	aCGH	608799
DPM3	Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy	aCGH	605951
DSC2	Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia	aCGH	107970
DSC2	Sequential Testing of Four Desmosomal Genes DSC2, DSG2, DSP, PKP2	aCGH	125647
DSG2	Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia	aCGH	107970
DSG2	Sequential Testing of Four Desmosomal Genes DSG2, DSP, DSC2, PKP2	aCGH	125647
DSP	Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and Related Disorders	aCGH	125647
DSP	Sequential Testing of Four Desmosomal Genes DSP, DSG2, DSC2, PKP2	aCGH	125647
DSPP	Dentinogenesis Imperfecta (DGI) and Dentin Dysplasia (DD)	aCGH	125647
DTNBP1	Hermansky-Pudlak Syndrome Type 7 (HPS7)		607145
DYSF	Limb Girdle Muscular Dystrophy, Type 2B	aCGH	603009

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Gene	Tests Offered	Del/Dup Tests	OMIM
EBP	Conradi-Hunermann Syndrome / Chondrodysplasia Punctata, X-Linked Dominant	aCGH	302960
EIF2B1-EIF2B5	Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy	aCGH	603896
ELANE	Autosomal Dominant Severe Congenital Neutropenia and Cyclic Neutropenia	aCGH	202700
	Severe Congenital Neutropenia Panel	aCGH	202700
EMD	Emery-Dreifuss Muscular Dystrophy-1 (EDMD1)	aCGH	300384
ENG	Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1)/ Osler-Weber-Rendu Disease	aCGH	187300
ESCO2	Roberts Syndrome		268300
EVC, EVC2	Ellis-van Creveld Syndrome (EVC)	aCGH	225500
EXT1, EXT2	Hereditary Multiple Osteochondromas (HMO)	aCGH	608177/608210

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Gene	Tests Offered	Del/Dup Tests	OMIM
FAH	Tyrosinemia, Type I	aCGH	276700
FANCA	Fanconi Anemia	aCGH	607139
FANCB	Fanconi Anemia (X-Linked)	aCGH	227650
FANCC	Fanconi Anemia	aCGH	227645
FANCD2	Fanconi Anemia		227650
FANCE	Fanconi Anemia	aCGH	227650
FANCF	Fanconi Anemia	aCGH	227650
FANCG	Fanconi Anemia	aCGH	602956
FANCI	Fanconi Anemia	aCGH	227650
FANCJ/BRIP1	Fanconi Anemia	aCGH	227650
FANCL	Fanconi Anemia	aCGH	227650
FANCM	Fanconi Anemia	aCGH	227650
FANCN/PALB2	Fanconi Anemia	aCGH	227650
FBN1	Marfan Syndrome	aCGH	154700
FBN2	Congenital Contractural Arachnodactyly (Beals Syndrome)	aCGH
FBP1	Fructose-1,6-Bisphosphatase Deficiency	aCGH	229700
FGD1	Aarskog-Scott Syndrome		305400
FGFR3	Achondroplasia	aCGH	100800
	Achondroplasia/Hypochondroplasia	aCGH	100800
	Hypochondroplasia	aCGH	146000
	Thanatophoric Dysplasia	aCGH	187600
FKRP	Limb Girdle Muscular Dystrophy, Type 21	aCGH	606596
	Congenital Muscular Dystrophy, Type 1C	aCGH	606596
	Dystroglycan-Related Muscular Dystrophy Sequential Testing	aCGH	606596
FKTN	Fukuyama Congenital Muscular Dystrophy, Walker-Warburg Syndrome, Limb Girdle Muscular Dystrophy	aCGH	607440
	Dystroglycan-Related Muscular Dystrophy Sequential Testing	aCGH	607440
	Walker-Warburg Syndrome	aCGH	607440
	Limb Girdle Muscular Dystrophy	aCGH	607440
	Japanese Founder Mutation PCR	aCGH	607440
FLNC	Myofibrillar Myopathy	aCGH	102565
FLT4	Hereditary Lymphedema, Type I (Milroy Disease)	aCGH	136352
FMO3	Trimethylaminuria via FMO3 Gene Sequencing	aCGH	136132
FOXC2	Lymphedema/Distichiasis Syndrome, Hereditary Lymphedema, Type II	aCGH	602402
FSHB	Male and Female Infertility	aCGH	136530
FSHR	Ovarian Dysgenesis 1	aCGH	233000
FSHR	Ovarian Hyperstimulation Syndrome	aCGH	233000
FUS	Amyotrophic Lateral Sclerosis / Motor Neuron Disease	aCGH	105400
FUS	Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS Panel)	aCGH	105400

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Gene	Tests Offered	OMIM
G6PC	Glycogen Storage Disease, Type Ia	aCGH	232200
G6PC3	Severe Congenital Neutropenia	aCGH	612541
	Severe Congenital Neutropenia Panel	aCGH	202700
GAA	Glycogen Storage Disease, Type II	aCGH	606800
GALC	Krabbe Disease	aCGH	606890
GALC	Krabbe Disease - GALC Deletion Test	aCGH	606890
GALNS	Mucopolysaccharidosis Type IVA / Morquio Type A Disease	aCGH	612222
GALT	Galactosemia	aCGH	606999
GAMT	Creatine Deficiency Syndrome	aCGH	612736
GARS	Charcot-Marie-Tooth Disease, Type 2D	aCGH	600287
GARS	Distal Hereditary Motor Neuronopathy, Type V	aCGH	600287
GARS	Glycyl tRNA Synthetase-Related Disorders	aCGH	600287
GATA1	Thrombocytopenia	aCGH	305371
GATM	Creatine Deficiency Syndrome	aCGH	612736
GBA	Gaucher Disease		606463
GBE1	Glycogen Storage Disease, Type IV	aCGH	607839
GCDH	Glutaric Acidemia	aCGH	608801
GCH1	DOPA Responsive Dystonia	aCGH	600225
GDF5	GDF5-Related Disorders
GDF6	Klippel-Feil Syndrome	aCGH	601147
GFI1	Severe Congenital Neutropenia		202700
	Severe Congenital Neutropenia Panel		202700
GFPT1	Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates	aCGH	138292
GHR	Laron Syndrome / Pituitary Dwarfism II (Growth Hormone Insensitivity)	aCGH	262500
GHSR	Short Stature with or without Partial Isolated Growth Hormone Deficiency	aCGH	602886
GLA	Fabry Disease	aCGH	301500
GLB1	GM1 Gangliosidosis and Morquio Syndrome Type B via GLB1    Gene Sequencing	aCGH	611458
GLI2	Holoprosencephaly-9 (Autosomal Dominant, Nonsyndromic)	aCGH	165230
	Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Testing	aCGH	165230
GLI3	Pallister-Hall Syndrome, Greig Cephalopolysyndactyly Syndrome, Postaxial Polydactyly A, Preaxial Polydactyly IV	aCGH	165240
GLIS2	Nephronophthisis	aCGH	608539
GM2A	Tay-Sachs Disease AB Variant/GM2-Gangliosidosis Variant AB	aCGH	272750
GNAT2	Achromatopsia	aCGH	139340
GNE	Inclusion Body Myopathy-2, Autosomal Recessive and Nonaka Myopathy	aCGH	147421
GNE	Sialuria, Exon 5 Sequencing	aCGH	269921
GNPTAB	Mucolipidosis II & Mucolipidosis III Alpha/Beta	aCGH	252500
GNPTAB	Stuttering	aCGH	252500
GNPTAB	Stuttering Panel	aCGH	252500
GNPTG	Mucolipidosis III Gamma	aCGH	252605
GNPTG	Stuttering	aCGH	252605
GNPTG	Stuttering Panel	aCGH	252605
GNS	Mucopolysaccharidosis Type IIID/Sanfilippo Syndrome D	aCGH	607664
GP1BA	Bernard-Soulier Syndrome	aCGH	606672
	Bernard-Soulier Sequential(GP1BA, GP1BB, GP9)	aCGH	606672
GP1BB	Bernard-Soulier Syndrome	aCGH	138720
GP9	Bernard-Soulier Syndrome	aCGH	173515
GPC3	Simpson-Golabi-Behmel Syndrome	aCGH	300037
GPR56	Bilateral Frontoparietal Polymicrogyria (BFPP)	aCGH	606854
GPR98	Usher Syndrome Type 2, in Male and Female Patients	aCGH	276901
GUSB	Mucopolysaccharidosis Type VII / Sly Syndrome	aCGH	611499
GYS2	Glycogen Storage Disease, Type 0	aCGH	138571

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Gene	Tests Offered	Del/Dup Tests	OMIM
HAX1	Autosomal Recessive Severe Congenital Neutropenia (Kostmann Disease)	aCGH	202700
	Severe Congenital Neutropenia Panel	aCGH	202700
HEPACAM	Megalencephalic Leukoencephalopathy with Subcortical Cysts		604004
HEXA	Tay-Sachs Disease	aCGH	606896
HEXB	Sandhoff Disease	aCGH	606873
HGSNAT	Mucopolysaccharidosis Type IIIC/Sanfilippo Syndrome C	aCGH	252930
HLCS	Multiple Carboxylase Deficiency	aCGH	609018
HMGCL	HMG-CoA Lyase Deficiency	aCGH	246450
HPS1	Hermansky-Pudlak Syndrome Type 1	aCGH	604982
HPS3	Hermansky-Pudlak Syndrome Type 3 (HPS3)	aCGH	203300
HPS4	Hermansky-Pudlak Syndrome Type 4 (HPS4)	aCGH	203300
HPS5	Hermansky-Pudlak Syndrome Type 5 (HPS5)	aCGH	203300
HPS6	Hermansky-Pudlak Syndrome Type 6 (HPS6)	aCGH	203300
HRAS	Costello Syndrome	aCGH	190020
HSD17B3	46,XY Disorder of Sex Development (DSD)	aCGH	605573
HSPB1	Heat Shock 27 kDa Protein-Related Disorders	aCGH	606595
HSPB8	Heat Shock 22 kDa Protein-Related Disorders	aCGH	608014
HYAL1	Mucopolysaccharidosis Type IX via HYAL1 Gene Sequencing	aCGH	607071

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- I -

Gene	Tests Offered	Del/Dup Tests	OMIM
IDS	Mucopolysaccharidosis Type 2		309900
IDUA	Mucopolysaccharidosis Type 1	aCGH	607015
IFT122	Cranioectodermal Dysplasia 1		606045
IGHMBP2	Spinal Muscular Atrophy with Respiratory Distress Type 1	aCGH	604320
IMPDH1	Retinitis Pigmentosa (Autosomal Dominant, Nonsyndromic)	aCGH	146690
INPP5E	Ciliopathy	aCGH	213300
	Joubert Syndrome Sequential Test	aCGH	213300
INVS	Nephronophthisis	aCGH	602088
IQCB1/NPHP5	Nephronophthisis and Senior-Loken Syndrome	aCGH	609237
ITGA7	Integrin Alpha 7-Related Congenital Myopathy Testing	aCGH	600536
IVD	Isovaleric Acidemia	aCGH	607036

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- J -

Gene	Tests Offered	Del/Dup Tests	OMIM
JAG1	Alagille Syndrome	aCGH	601920
JUP	Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair/Naxos Disease	aCGH	601214

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- K -

Gene	Tests Offered	Del/Dup Tests	OMIM
KBTBD13	Nemaline Myopathy With Cores (NEM6)	aCGH	613727
KIT	Piebaldism and Familial Gastrointestinal Stromal Tumors (GISTs)	aCGH	164920
KRAS	Cardio-Facio-Cutaneous Syndrome	aCGH	190070
	Noonan, CFC and Costello Syndromes	aCGH	190070
KRIT1(CCM1)	KRIT1/CCM1 Gene Sequencing	aCGH	604214
	KRIT1/CCM1 "Common Hispanic" Mutation	aCGH	604214
	CCM Sequential Test	aCGH	604214
KTU/C14orf104	Primary Ciliary Dyskinesia (PCD)	aCGH	612517

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- L -

Gene	Tests Offered	Del/Dup Tests	OMIM
L1CAM	L1 Syndrome	aCGH	307000
LAMA2	Merosin-Deficient Congenital Muscular Dystrophy	aCGH	156225
	Mexican Exon 55 Mutation	aCGH	156225
LAMP2	Danon Disease/Glycogen Storage Disease IIb	aCGH	300257
LARGE	Walker-Warburg Syndrome	aCGH	603590
	Congenital Muscular Dystrophy, Type 1D	aCGH	603590
	Dystroglycan-Related Muscular Dystrophy Sequential Testing	aCGH	603590
LDB3	Myofibrillar Myopathy	aCGH	605906
LFNG	Spondylocostal Dysostosis	aCGH	602576
	Spondylocostal Dysostosis Sequential Test	aCGH	602576
LHX4	Combined Pituitary Hormone Deficiency-4 (CPHD-4)	aCGH	602146
LIPA	Wolman Disease and Cholesteryl Ester Storage Disease	aCGH	150330
LMBRD1	Methylmalonic Aciduria and Homocystinuria, cblF Type	aCGH	277380
LMNA	Hutchinson-Gilford Progeria Syndrome	aCGH	150330
	Atypical Werner Syndrome	aCGH	150330
	Charcot-Marie-Tooth Neuropathy Type 2B1	aCGH	150330
	Dilated Cardiomyopathy	aCGH	150330
	Emery-Dreifuss Muscular Dystrophy	aCGH	150330
	Familial Partial Lipodystrophy	aCGH	150330
	Hutchinson-Gilford Progeria Syndrome	aCGH	150330
	Lethal Tight Skin Contracture Syndrome (Restrictive Dermopathy)	aCGH	150330
	Limb-Girdle Muscular Dystrophy Type 1B	aCGH	150330
	Lipoatrophy	aCGH	150330
	LMNA-Related Dilated Cardiomyopathy	aCGH	150330
	Mandibuloacral Dysplasia	aCGH	150330
LPIN1	Childhood Recurrent Acute Myoglobinuria, Autosomal Recessive	aCGH	605518
LPIN1	Paroxysmal Paralytic Rhabdomyolysis, Autosomal Recessive, Exons 18-19 Deletion Test	aCGH	605518
LRRC50	Primary Ciliary Dyskinesia (PCD)	aCGH	613190
LYST	Chediak-Higashi Syndrome (CHS)	aCGH	606897

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- M -

Gene	Tests Offered	Del/Dup Tests	OMIM
MAP2K1	Cardio-Facio-Cutaneous Syndrome	aCGH	176872
MAP2K2	Cardio-Facio-Cutaneous Syndrome	aCGH	601263
MASTL	Thrombocytopenia	aCGH	608221
MATN3	Multiple Epiphyseal Dysplasia	aCGH
	Multiple Epiphyseal Dysplasia Panel	aCGH	226900
MATR3	Distal Myopathy 2	aCGH	164015
MCCC1	3-Methylcrotonyl-CoA Carboxylase Deficiency	aCGH	609010
MCCC2	3-Methylcrotonyl-CoA Carboxylase Deficiency	aCGH	609014
MED12	Lujan Syndrome / FG Syndrome Type 1	aCGH	309520
MEK1	Cardio-Facio-Cutaneous Syndrome		176872
MEK2		aCGH	601263
MEN1	Multiple Endocrine Neoplasia Type 1	aCGH	131100
MESP2	Spondylocostal Dysostosis	aCGH	605195
	Spondylocostal Dysostosis Sequential Testing	aCGH	605195
	Spondylothoracic Dysostosis	aCGH	605195
	Jarcho-Levin Syndrome	605195	aCGH
MKKS/BBS6	Bardet-Biedl Syndrome	aCGH	209900
MKS1	Meckel-Gruber Syndrome Testing	aCGH	609883
	Meckel-Gruber Syndrome Sequencing Panel	aCGH	609883
MKS3	Joubert and Meckel-Gruber Syndrome		609884
	Joubert Syndrome Sequential Evaluation		609884
MLC1	Megalencephalic Leukoencephalopathy with Subcortical Cysts		604004
MLH1	Lynch Syndrome	aCGH	102436
MLH3	Lynch Syndrome	aCGH	120435
MMAA	Methylmalonic Acidemia (cblA type)	aCGH	607481
	Methylmalonic Acidemia Sequential Testing	aCGH	607481
MMAB	Methylmalonic Acidemia (cblB type)	aCGH	607568
	Methylmalonic Acidemia Sequential Testing	aCGH	607568
MMACHC	Methylmalonic Aciduria and Homocystinuria, cblC type
MMADHC	Methylmalonic Aciduria and Homocystinuria, cblD type
MPDU1	Congenital Disorders of Glycosylation, Type If (CDG If)	aCGH	609180
MPDU1	Panel 2: ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2	aCGH	609180
MPI	Congenital Disorders of Glycosylation, Type Ib	aCGH	154550
MPI	Panel 1: PMM2, MPI, ALG6	aCGH	154550
MPL	Congenital Amegakaryocytic Thrombocytopenia	aCGH	159530
MSH2	Lynch Syndrome	aCGH	609309
MSH6	Lynch Syndrome	aCGH	600678
MUSK	Congenital Myasthenic Syndrome	aCGH	608931
MUSK	Congenital Myasthenic Syndrome Panel	aCGH	608931
MUT	Methylmalonic Acidemia	aCGH	251000
	Methylmalonic Acidemia Sequential Testing	aCGH	251000
MUTYH	MUTYH Associated Polyposis (MAP) Syndrome	aCGH	608456
MYBPC3	Hypertrophic Cardiomyopathy	aCGH	600958
	Hypertrophic Cardiomyopathy Sequential Testing	aCGH	600958
MYH2	Inclusion Body Myopathy-3, Autosomal Dominant		605637
MYH3	MYH3-Related Distal Arthrogryposis Syndromes	aCGH	160720
MYH6	Hypertrophic Cardiomyopathy	aCGH	160710
MYH7	Hypertrophic Cardiomyopathy and other MYH7-Related Disorders	aCGH	160760
	Hypertrophic Cardiomyopathy Sequential Testing	aCGH	160760
MYH9	MYH9-Related Disorders	aCGH	160775
MYL2	Hypertrophic Cardiomyopathy	aCGH	160781
	Hypertrophic Cardiomyopathy Sequential Testing	aCGH	160781
MYL3	Hypertrophic Cardiomyopathy	aCGH	160781
	Hypertrophic Cardiomyopathy Sequential Testing	aCGH	160781
MYO7A	Usher Syndrome Type 1	aCGH	276900
MYOT/TTID	Myotilinopathy Testing, Limb Girdle Muscular Dystrophy, Type 1A (LGMD1A), Myotilin-Related Myofibrillar Myopathy	aCGH	604103

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- N -

Gene	Tests Offered	Del/Dup Tests	OMIM
NAGLU	Mucopolysaccharidosis Type IIIB/Sanfilippo Syndrome B	aCGH	609701
NAGPA	Stuttering	aCGH	608300
NAGPA	Stuttering Panel	aCGH	608300
NAGS	Hyperammonemia	aCGH	608300
NEB	Nemaline Myopathy	aCGH	161650
	Ashkenazi Jewish Mutation Exon 55 Deletion Test	aCGH	161650
NEK8/NPHP9	Nephronophthisis	aCGH	609799
NF1	Neurofibromatosis-Noonan Syndrome	aCGH	162200
NF1	Neurofibromatosis Type 1 and Related Disorders	aCGH	162200
NF2	Neurofibromatosis Type 2	aCGH	101000
NODAL	Heterotaxy, Visceral 5 (HTX5)	aCGH	270100
NPC1	Niemann-Pick Disease Type C1	aCGH	607623
NPC2	Niemann-Pick Disease Type C2	aCGH	601015
NPHP1	NPHP1 Homozygous Deletion Testing for Joubert Syndrome and Nephronophthisis	aCGH	607100
	Nephronophthisis and Joubert Syndrome	aCGH	256100
	Joubert Syndrome Sequential Test	aCGH	607100
NPHP2/INVS	Nephronophthisis	aCGH	602088
NPHP3	Nephronophthisis	aCGH	608002
NPHP4	Nephronophthisis	aCGH	607215
NPHP9/NEK8	Nephronophthisis	aCGH	609799
NR2E3	Retinitis Pigmentosa (Autosomal Dominant or Recessive, Nonsyndromic)	aCGH	604485
NRAS	Noonan Syndrome	aCGH	163950
NSD1	Sotos Syndrome	aCGH	606681

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- O -

Gene	Tests Offered	OMIM
OFD1	Oral-Facial-Digital Syndrome Type 1, Simpson-Golabi-Behmel Syndrome Type 2 and X-Linked Recessive Joubert Syndrome-10	aCGH	311200
OPHN1	X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance	aCGH	300486
OPTN	Amyotrophic Lateral Sclerosis and Primary Open-Angle Glaucoma	aCGH	105400
OTC	Hyperammonemia	aCGH	300461

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- P -

Gene	Tests Offered	Del/Dup Tests	OMIM
PAFAH1B1/LIS1	Classic lissencephaly	aCGH	607432
PAH	Phenylalanine Hydroxylase Deficiency	aCGH	261600
PALB2/FANCN	Fanconi Anemia	aCGH	227650
PCCA	Propionic Acidemia	aCGH	232000
	Propionic Acidemia Sequential Testing	aCGH	232000
PCCB	Propionic Acidemia	aCGH	232050
	Propionic Acidemia Sequential Testing	aCGH	232050
PCDH15	Usher Syndrome Type 1	aCGH	276900
	Usher Syndrome via Sequential Sequencing of MYO7A, CDH23, PCDH15 and USH1C Genes	aCGH	276900
PDCD10 (CCM3)	Cerebral Cavernous Malformations	aCGH	609118
	CCM Sequential Test	aCGH	604214
PDE6A	Retinitis Pigmentosa, Autosomal Recessive	aCGH	268000
PDE6B	Retinitis Pigmentosa, Autosomal Recessive and Congenital Stationary Night Blindness	aCGH	268000
PDE6C	Achromatopsia	aCGH	600827
PFKM	Glycogen Storage Disease, Type VII (Tarui Disease)	aCGH	610681
PHKA1	Glycogen Storage Disease, Type IX		311870
PHKA2	Glycogen Storage Disease, Type IX	aCGH	306000
PHKB	Glycogen Storage Disease, Type IX	aCGH	172490
PHKG2	Glycogen Storage Disease, Type IX	aCGH	172471
PKHD1	Autosomal Recessive Polycystic Kidney Disease	aCGH	606702
PKP2	Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia		107970
PKP2	Sequential Testing of Four Desmosomal Genes PKP2, DSG2, DSP, DSC2		125647
PLN	Dilated Cardiomyopathy	aCGH	115200
PLP1	PLP1-Related Disorders (Pelizaeus-Merzbacher Disease and Spastic Paraplegia 2)	aCGH	300401
PMM2	Congenital Disorders of Glycosylation, Type Ia	aCGH	601785
PMM2	Panel 1: PMM2, MPI, ALG6	aCGH	601785
PMS1	Lynch Syndrome	aCGH	600258
PMS2	Lynch Syndrome		120435
PNKD	Paroxysmal Nonkinesigenic Dyskinesia	aCGH	609023
POMGNT1	Muscle-Eye-Brain Disease	aCGH	606822
	Dystroglycan-Related Muscular Dystrophy Sequential Testing	aCGH	606822
	Walker-Warburg Syndrome	aCGH	606822
POMT1	Walker-Warburg Syndrome	aCGH	607423
	Dystroglycan-Related Muscular Dystrophy Sequential Testing	aCGH	607423
	Limb-Girdle Muscular Dystrophy, Type 2K	aCGH	607423
POMT2	Walker-Warburg Syndrome	aCGH	607439
	Dystroglycan-Related Muscular Dystrophy Sequential Testing	aCGH	607439
	Muscle-Eye-Brain Disease	aCGH	607439
PRF1	Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2)	aCGH	267700
	Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel	aCGH	267700
PRKAG2	PRKAG2-Related Disorders; Wolff-Parkinson-White Syndrome; Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; Glycogen Storage Disease of Heart, Lethal Congenital	aCGH	194200
PRPF3	Retinitis Pigmentosa (Autosomal Dominant or Sporadic, Nonsyndromic)	aCGH	607301
PRPF8	Retinitis Pigmentosa (Autosomal Dominant, Nonsyndromic)	aCGH	607300
PRPF31	Retinitis Pigmentosa (Autosomal Dominant and Sporadic, Nonsyndromic)	aCGH	179605
PRPH2	Retinitis Pigmentosa (Autosomal Dominant, Nonsyndromic)	aCGH	179605
PSAP	Metachromatic Leukodystrophy	aCGH	176801
	Metachromatic Leukodystrophy Panel	aCGH	250100
PTCH1	Holoprosencephaly-7 (Autosomal Dominant, Nonsyndromic)	aCGH	601309
	Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Testing	aCGH	601309
PTPN11	Noonan Syndrome	aCGH	176876
	Noonan Syndrome Sequential	aCGH	176876
	LEOPARD Syndrome	aCGH	176876
PTEN	PTEN Hamartoma Tumor Syndrome	aCGH	601728
PYGL	Glycogen Storage Disease, Type VI	aCGH	232700
PYGM	Glycogen Storage Disease, Type V (McArdle Disease)	aCGH	608455

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- R -

Gene	Tests Offered	Del/Dup Tests	OMIM
RAB27A	Griscelli Syndrome-Type 2 (GS2)	aCGH	607624
RAF1	Noonan and Leopard Syndromes	aCGH	164760
	Noonan Syndrome Sequential Testing	aCGH	164760
RAPSN	Rapsyn-Related Disorders	aCGH	601592
RAPSN	Congenital Myasthenic Syndrome Panel	aCGH	608931
RAPSN	Pena-Shokeir Syndrome, Type 1 (Fetal Akinesia Deformation Sequence)	aCGH	208150
RDH12	Leber Congenital Amaurosis, Progressive	aCGH	204000
RELN	Lissencephaly with Cerebellar Hypoplasia	aCGH	600514
RET	Hirschsprung Disease	aCGH	164761
RET	Multiple Endocrine Neoplasia Type 2A (MEN2A) and Familial Medullary Thyroid Carcinoma (FMTC)	aCGH	164761
RET	Multiple Endocrine Neoplasia Type 2B (MEN2B)	aCGH	164761
RHO	Retinitis Pigmentosa (Autosomal Dominant, Nonsyndromic)	aCGH	268000
RMRP	Cartilage-Hair Hypoplasia (CHH) and Related Disorders	aCGH	157660
ROR2	Robinow Syndrome, Autosomal Recessive; Brachydactyly, Type B1	aCGH	602337
RP1	Retinitis Pigmentosa (Autosomal Dominant, Nonsyndromic)	aCGH	603937
RP2	X-linked Retinitis Pigmentosa (XLRP)		268000
RPE65	Leber Congenital Amaurosis or Retinitis Pigmentosa	aCGH	180069
RPGR	Primary Ciliary Dyskinesia (PCD)		312610
RPGR	X-Linked Retinitis Pigmentosa (XLRP)		268000
RPGRIP1L	Joubert and Meckel-Gruber Syndromes	aCGH	164760
	Joubert Syndrome Sequential Test	aCGH	164760
	Meckel-Gruber Syndrome Sequencing Panel	aCGH	164760
RSPH4A	Primary Ciliary Dyskinesia (PCD)	aCGH	612647
RSPH9	Primary Ciliary Dyskinesia (PCD)	aCGH	612648
RUNX1	Familial Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia	aCGH	151385
RUNX2	Cleidocranial Dysplasia (CCD)	aCGH	600211
RYR1	Malignant Hyperthermia Susceptibility	aCGH	180901
	Central Core Disease	aCGH	117000
	Multiminicore Disease	aCGH	117000
RYR2	Catecholaminergic Polymorphic Ventricular Tachycardia	aCGH	180902

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- S -

Gene	Tests Offered	Del/Dup Tests	OMIM
SALL1	Townes-Brocks Syndrome		107480
SALL4	Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome		607323
SCN5A	Brugada Syndrome 1	aCGH	601144
SDCCAG8	Nephronophthisis / Senior Loken Syndrome and Bardet-Biedl Syndrome	aCGH	613615
SEPN1	Rigid Spine Muscular Dystrophy-1	aCGH	606210
	Multiminicore Disease (MmD)	aCGH	606210
SETX	Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type-4	aCGH	602433
SGCA	Limb Girdle Muscular Dystrophy, Type 2D	aCGH	600119
SGCB	Limb Girdle Muscular Dystrophy, Type 2E	aCGH	600900
SGCD	Dilated Cardiomyopathy and Limb Girdle Muscular Dystrophy, Type 2F	aCGH	601411
SGCE	Myoclonus-Dystonia Syndrome		604149
SGCG	Limb Girdle Muscular Dystrophy, Type 2C	aCGH	608896
SGSH	Mucopolysaccharidosis Type IIIA/Sanfilippo Syndrome A	aCGH	605270
SHH	Holoprosencephaly-3 (Autosomal Dominant, Nonsyndromic)	aCGH	236100
	Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Testing	aCGH	236100
SHOC2	Noonan-Like Syndrome with Loose Anagen Hair	aCGH	607721
SHOX	Short Stature Homeobox (SHOX)-related Haploinsufficiency Disorder	aCGH	607721
SIX3	Holoprosencephaly-2 (Autosomal Dominant, Nonsyndromic)	aCGH	603714
	Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Testing	aCGH	603714
SLC26A2	Achondrogenesis Type 1B (ACG1B)	aCGH	606718
	Atelosteogenesis Type 2 (AO2)	aCGH	606718
	Diastrophic Dysplasia (DTD)	aCGH	606718
	Multiple Epiphyseal Dysplasia Panel	aCGH	226900
	Multiple Epiphyseal Dysplasia, Recessive (EDM4/rMED)	aCGH	606718
SLC2A2	Fanconi-Bickel Syndrome (Glycogen Storage Disease, Type XI)	aCGH	138160
SLC35C1	Leukocyte Adhesion Deficiency Type 2 (LADII)	aCGH	605881
SLC37A4	Glycogen Storage Disease, Type Ib	aCGH
SLC9A6	Christianson Type X-Linked Mental Retardation	aCGH	300231
SMAD4	Juvenile Polyposis Syndrome (JPS)	aCGH	600993
SOD1	Amyotrophic Lateral Sclerosis / Motor Neuron Disease (Autosomal Dominant)	aCGH	147450
SOD1	Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS Panel)	aCGH	147450
SOS1	Noonan Syndrome	aCGH	182530
	Noonan Syndrome Sequential Testing	aCGH	182530
SOX18	Lymphedema with Hypotrichosis and Telangiectasia	aCGH	601618
SPRED1	Neurofibromatosis Type 1-Like Syndrome	aCGH	609291
SQSTM1	Paget Disease of Bone		602080
STK11	Peutz-Jeghers Syndrome	aCGH	175200
STX11	Familial Hemophagocytic Lymphohistiocytosis-Type 4 (FHL4)	aCGH	267700
	Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel	aCGH	267700
STXBP2	Familial Hemophagocytic Lymphohistiocytosis-Type 5 (FHL5)	aCGH	267700
	Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel	aCGH	267700
SUMF1	Multiple Sulfatase Deficiency / Mucosulfatidosis	aCGH	607939
SYNE1	Synaptic Nuclear Envelope Protein-1 Related Disorders	aCGH	610743

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- T -

Gene	Tests Offered	Del/Dup Tests	OMIM
TARDBP	Amyotrophic Lateral Sclerosis / Motor Neuron Disease	aCGH	105400
TARDBP	Amyotrophic Lateral Sclerosis / Motor Neuron Disease (ALS Panel)	aCGH	105400
TAZ	Barth Syndrome: X-Linked Dilated Cardiomyopathy; Left Ventricular Noncompaction, and Endocardial Fibroelastosis	aCGH	302060
TBX4	Small Patella Syndrome	aCGH	147891
TBX5	Holt-Oram Syndrome (HOS)	aCGH	601620
TCAP	Telethoninopathy Testing	aCGH	604488
TCTN2	Meckel-Gruber Syndrome / Joubert Syndrome	aCGH	249000
TGFB1	Camurati-Engelmann Disease (CED)	aCGH	190180
TGFBR1	Loeys-Dietz Syndrome	aCGH	609192
TGFBR2	Loeys-Dietz Syndrome	aCGH	610380
TGIF1	Holoprosencephaly-4 (Autosomal Dominant, Nonsyndromic)	aCGH
	Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Testing	aCGH
TH	Tyrosine Hydroxylase Deficiency and Related Disorders	aCGH	605407
TIMP3	Sorsby Fundus Dystrophy, Autosomal Dominant	aCGH	136900
TMEM216	Joubert Syndrome	aCGH	213300
	Joubert Syndrome Sequential Test	aCGH	213300
TMEM43	Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia	aCGH	107970
TMEM67	Joubert and Meckel-Gruber Syndromes	aCGH	609884
	Joubert Syndrome Sequential Test	aCGH	607100
	Meckel-Gruber Syndrome Sequencing Panel	aCGH	609884
TNFRSF11A	Paget Disease of Bone, Autosomal Recessive Osteopetrosis and Familial Expansile Osteolysis		602080
TNFRSF11B		aCGH	239000
TNNC1	Hypertrophic Cardiomyopathy	aCGH	192600
TNNI2	Distal Arthrogryposis 2B (Sheldon-Hall Syndrome)	aCGH	191043
TNNI3	Hypertrophic Cardiomyopathy and Related Disorders	aCGH	192600
TNNT1	Nemaline Myopathy 5 (Amish Nemaline Myopathy)	aCGH	191041
TNNT2	Hypertrophic Cardiomyopathy and Related Disorders	aCGH	192600
TNNT3	Distal Arthrogryposis 2B (Sheldon-Hall Syndrome)	aCGH	600692
TOR1A	Early-Onset Primary Dystonia	aCGH	605204
TP53	Li-Fraumeni Syndrome	aCGH	151623
TP63	TP63-Related Disorders
TPM1	Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy	aCGH	115196
TPM2	Tropomyosin 2-Related Disorders	aCGH	190990
TPM3	Tropomyosin 3-Related Myopathies	aCGH	191030
TRAPPC2	X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT)		313400
TRIM32/BBS11	Bardet-Biedl Syndrome	aCGH	209900
TRPS1		aCGH	190351
TRPV4	TRPV4-related Disorders
TSEN2	Pontocerebellar Hypoplasias Subtype 2	aCGH	608753
TSEN34	Pontocerebellar Hypoplasias Subtype 2	aCGH	608754
TSEN54	Pontocerebellar Hypoplasias Subtypes 2 and 4	aCGH	277470
TTC8/BBS8	Bardet-Biedl Syndrome	aCGH	209900
TTID/MYOT	Myotilinopathy Testing, Limb Girdle Muscular Dystrophy, Type 1A (LGMD1A), Myotilin-Related Myofibrillar Myopathy	aCGH	604103
TTN	Limb Girdle Muscular Dystrophy, Type 2J and Tibial Muscular Dystrophy	aCGH	188840
TUBA1A	Lissencephaly 3	aCGH	602529
TULP1	Retinitis Pigmentosa and Leber Congenital Amaurosis	aCGH	268000
TXNDC3	Primary Ciliary Dyskinesia (PCD)	aCGH	607421

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- U -

Gene	Tests Offered	Del/Dup Tests	OMIM
UNC13D	Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3)	aCGH	267700
	Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel	aCGH	267700
USH1C	Usher Syndrome Type 1	aCGH	276900
	Usher Syndrome via Sequential Sequencing of MYO7A, CDH23, PCDH15 and USH1C Genes	aCGH	276900
USH1G	Usher Syndrome Type 1	aCGH	276900
USH2A	Usher Syndrome Type 2	aCGH	608400

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- V -

Gene	Tests Offered	Del/Dup Tests	OMIM
VAPB	Amyotrophic Lateral Sclerosis-8 / Spinal Muscular Atrophy, Autosomal Dominant, Adult-Onset	aCGH	607817
VCL	Hypertrophic Cardiomyopathy	aCGH	192600
VCP	Valosin-Containing Protein-Related Disorders	aCGH	613954
VIPAR	Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome	aCGH	613401
VPS13B (COH1)	Cohen Syndrome	aCGH	607817
VPS33B	Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome	aCGH	208085

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- W -

Gene	Tests Offered	Del/Dup Tests	OMIM
WAS	Wiskott-Aldrich Syndrome and Related Disorders	aCGH
	Severe Congenital Neutropenia Panel	aCGH	202700
WDR35	Cranioectodermal Dysplasia 2 (CED2)/Short-Rib Polydactyly Syndromes Type 5 (SRP5)	aCGH	218330
WDR62	Primary Autosomal Recessive Microcephaly Type 2	aCGH	604317

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- X -

Gene	Tests Offered	Del/Dup Tests	OMIM
XPNPEP3	Nephronophthisis-Like Nephropathy-1	aCGH	613553

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- Y -

Gene	Tests Offered	Del/Dup Tests	OMIM
YWHAE	Miller-Dieker Lissencephaly Syndrome	aCGH	605066

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- Z -

Gene	Sequencing Tests	Del/Dup Tests	OMIM
ZIC2	Holoprosencephaly-5	aCGH	603073
	Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Testing	aCGH	603073
ZIC3	X-Linked Heterotaxy	aCGH	300265
ZMPSTE24	Restrictive Dermopathy	aCGH	606480
	Mandibuloacral Dysplasia	aCGH	606480