Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

New York Clients

The tests listed on this page and any subsequent familial variant testing are approved or conditionally approved by New York State and do not require an NYS “NPL” exemption.

 

If the test needed is not in one of the above approved categories, please complete the New York Exemption Form below and fax it to the NYS Department of Health to seek their permission before shipping the specimen to GeneDx. Pre-approval is recommended because denial is possible.

NYS Dept. of Health Instructions            New York Exemption Form

Tests that do not require a New York exemption:

Disorder Test Code Test Name Genes
Whole Exome Sequencing 561

Whole Exome Sequencing Test (XomeDx)

Whole Exome
XomeDxPrenatal 959, J499

XomeDxPrenatal (Targeted and Comprehensive options available)

Whole Exome
XomeDxXpress 896

XomeDxXpress (WES with a Verbal Result in 7 Days)

 Whole Exome
Whole Exome Sequencing & Mitochondrial Genome 690

Whole Exome Sequencing & Mitochondrial Genome Sequencing and Deletion Testing (XomeDxPlus)

Whole Exome & Mitochondrial Genome
Custom XomeDxSlice 706

XomeDxSlice (Phenotype-driven Specific Gene List Using WES Capture)

 Whole Exome

Autism/ID Xpanded Panel

EpiXpanded Panel

Microcephaly Xpanded Panel

Xpanded Panel Family Member Testing (EpiXpanded,  Autism/ID Xpanded, Microcephaly Xpanded)

952

921

J511

923
954
J513

Autism/ID Xpanded Panel

EpiXpanded Panel

Microcephaly Xpanded Panel

Xpanded Family Member Testing

2000+ genes

1ooo+ genes

~800 genes

 

Epidermolysis Bullosa (EB) 707 Epidermolysis Bullosa (EB) XomeDxSlice Whole Exome
Congenital Ichthyosis (CI) 708 Congenital Ichthyosis (CI) XomeDxSlice Whole Exome
Whole Genome Chromosomal Microarray (CMA) 910 GenomeDx Whole Genome
Whole Genome Chromosomal Microarray (CMA) for Products of Conception 460 Whole Genome CMA for Products of Conception Whole Genome
Prenatal Targeted Array 410 Prenatal Targeted Array Targeted microarray
Deletion/Duplication Test for Any Gene 906 ExonArrayDx Use ‘Search Site’ above to check any gene for Del/Dup Lab Method = Exon Array CGH
58 mtDNA Point Mutations plus Large Deletions 704 58 mtDNA Point Mutations plus Large Deletions Panel 58 mtDNA Point Mutations
Alagille Syndrome 1001 JAG1 Tier 1 Sequencing & Del/Dup JAG1
Alagille Syndrome 1002 JAG1 Tier 2 Sequencing JAG1
Alagille Syndrome 1004 JAG1 Gene Sequencing & Del/Dup JAG1

Androgen Insensitivity Syndrome (AIS)

 

220

906

AR Gene Sequencing

AR Del/Dup

AR
Androgen Insensitivity Syndrome (AIS) 2201 Prenatal AR Gene Sequencing AR

Arrhythmias

695

Arrhythmia Panel (Seq & Del/Dup)

ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNE1L, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LMNA, NKX2-5, PKP2, PLN, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43, TRDN, TRPM4, TTN
Arrhythmogenic Right
Ventricular Cardiomyopathy (ARVC)

483

ARVC Sequencing and Del/Dup Panel

DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN
Brugada Syndrome 481 BrS Sequencing and Del/Dup Panel

ABCC9 , CACNA1C, CACNB2, GPD1L, KCND3, KCNE3, KCNJ8, PKP2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, TRPM4

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) 482 CPVT Sequencing and Del/Dup Panel CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TRDN

Cardiomyopathies 

694

Cardiomyopathy Panel (Seq & Del/Dup)

ABCC9 , ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CAV3, CHRM2, CRYAB , CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL1, FKRP, FKTN, GATAD1, GLA, HCN4, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3 , LMNA, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL , NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SGCD, SOS1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
Carney Complex

198

906

PRKAR1A Gene Sequencing

PRKAR1A Del/Dup

PRKAR1A
Charcot Marie Tooth

742

PMP22 Del/Dup

PMP22
CHARGE Syndrome

2261

906

CHD7 Gene Sequencing

CHD7 Del/Dup

CHD7
CHARGE Syndrome 2262 Prenatal CHD7 Gene Sequencing CHD7

Chromosome Analysis 

4341

4342

4343

4344

4345

4346

Chromosome Analysis, Amniotic Fluid

Chromosome Analysis, Chorionic Villus Sample (CVS)

Chromosome Analysis, Peripheral Blood (routine)

Chromosome Analysis, Products of Coception (POC)

Chromosome Analysis, Peripheral Blood (rule out Mosaicism)

Chromosome Analysis, PUBS

 
Chronic Granulomatous Disease (CGD) 1435 NCF1 (Exon 2) Gene Sequencing NCF1
Chronic Granulomatous Disease (CGD)

1434

609

CYBB Gene Sequencing

CYBB Del/Dup

CYBB
Chronic Infantile Neurologic Cutaneous and Articular Syndrome; Familial Cold Autoinflammatory Syndrome; Familial Cold Urticaria syndrome; Muckle-Wells Syndrome; Neonatal Onset Multisystem Inflammatory Disease 217 NLRP3 Exon 3 Sequencing NLRP3 (CIAS1)
Clouston Syndrome

157

GJB6 Gene Sequencing

GJB6
Cobalamin Metabolism & Related Disorders

667

 

685

Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel

Reflex Del/Dup Testing After MMA and Related Disorders Panel

ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MTR, MTRR, MUT, SUCLA2, SUCLG1
Combined Cardiac Panel

935

Combined Cardiac Panel

ABCC9 , ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB , CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL1, FKRP, FKTN, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3 , LMNA, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL , NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, SOS1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL
Cyclic Neutropenia, Severe Congenital Neutropenia 105 ELANE (ELA2) Gene Sequencing ELANE
Dent Disease

229

906

CLCN5 Gene Sequencing

CLCN5 Del/Dup

CLCN5
Diamond Blackfan Anemia

1061

906

RPS19 Gene Sequencing

RPS19 Del/Dup

RPS19
Dilated Cardiomyopathy/Left Ventricular Non-compaction J554 DCM/LVNC Sequencing and Del/Dup Panel ABCC9 , ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CHRM2, CRYAB , CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATAD1, ILK, LAMA4, LAMP2, LDB3 , LMNA, MIB1, MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH6, MYH7, MYPN, NEBL , NEXN, PLN, PRDM16, RAF1, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
Dopa-Responsive Dystonia; GTP Cyclohydrase I Deficiency

230

906

GCH1 Gene Sequencing

GCH1 Del/Dup

GCH1
Duchenne Muscular Dystrophy

786

787

DMD Gene Sequencing

DMD Del/Dup

DMD
Dyskeratosis Congenita

107

906

TERC Gene Sequencing

TERC Del/Dup

TERC
Dyskeratosis Congenita

108

906

DKC1 Gene Sequencing

DKC1 Del/Dup

DKC1
Ectodermal Dysplasia 156 EDAR Gene Sequencing EDAR
Ectodermal Dysplasia 1601E EDA1 Gene Sequencing & Del/Dup (Females) EDA1
Ectodermal Dysplasia 1601 EDA1 Gene Sequencing (Males) EDA1
Ectodermal Dysplasia, EEC, Rapp-Hodgkin, other 158 TP63 Gene Sequencing TP63
Epidermolysis Bullosa Simplex 168 KRT5/KRT14 Hot Spots Sequencing KRT5, KRT14
Epidermolysis Bullosa Simplex 1681 KRT5 Gene Sequencing KRT5
Epidermolysis Bullosa Simplex 1682 KRT14 Gene Sequencing KRT14
Epidermolytic Hyperkeratosis 1181 KRT1, KRT10 Hot Spots Sequencing KRT1, KRT10
Epidermolytic Hyperkeratosis 1182 KRT1 Gene Sequencing (EI)  KRT1
Epidermolytic Hyperkeratosis 1183 KRT10 Gene Sequencing KRT10
Epidermolytic Palmoplantar Keratoderma 2081 KRT9 Hot Spots Sequencing KRT9
Erythrokeratodermia Variabilis 119 Connexin Gene Sequencing GJB3, GJB4

Epilepsy Disorders

814

523

541

542

544 

729

STAT Epilepsy Panel

Comprehensive Epilepsy Panel

Infantile Epilepsy Panel

Childhood Epilepsy Panel

Progressive Myoclonic Epilepsy Panel

Rett/Angelman Syndrome and Related Disorders Panel

ADSL, ALDH7A1, ARX, ATP1A2, ATP6AP2, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DNAJC5, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A, GRIN2B, KANSL1, KCNJ10, KCNQ2, KCNQ3, KCTD7, LGI1, LIAS, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRPX2, STXBP1, SYN1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, ZEB2
Fabry Disease

2321

906

GLA Gene Sequencing

GLA Del/Dup (Females)

GLA
Familial Cutaneous Malignant Melanoma 2021 CDKN2A (p16) & CDK4 (Exon2) Sequencing CDKN2A, CDK4
Familial Cutaneous Malignant Melanoma 2022 CDKN2A (p16)Gene Sequencing CDKN2A
Familial Hypercholesterolemia (FH)  J556 FH Sequencing and Del/Dup Panel APOB, LDLR, LDLRAP1, PCSK9
Familial Mediterranean Fever 214 MEFV Select Exons Sequencing MEFV
Fatty Acid Oxidation Disorders

664

683

Fatty Acid Oxidation Sequencing Panel

Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel

ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HMGCL, HMGCS2, SLC22A5, SLC25A20
Gorlin Syndrome 205 PTCH Gene Sequencing & Del/Dup PTCH
Hereditary Angioedema

2341

906

C1INH Gene Sequencing & Del/Dup

C1INH Del/Dup

C1INH (SERPING1)

Hereditary Breast/Ovarian Cancer

B361-7

B362-5

B502-6

B501-8

B273

B521-6

J005

J055

J662

BRCA1/2 Ashkenazi Founder Mutation Panel

BRCA1/2 Sequencing and Del/Dup Analysis

BRCA1 and BRCA2 Sequencing

BRCA1 and BRCA2 Del/Dup

Breast/Ovarian Cancer Panel

Breast Cancer High Risk Panel

Breast Cancer High Risk Panel and PALB2

Breast Cancer High/Moderate Risk Panel

Breast Cancer Surgical Panel

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, XRCC2

Hereditary Cancer Syndrome B275 Comprehensive Cancer Panel APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, POLD1, POLE, PMS2, PTEN, RAD51C, RAD51D, SCG5/GREM1, SMAD4, STK11, TP53, VHL, XRCC2
Hereditary Colorectal Cancer

B274
B522-4
J006

Colorectal Cancer Panel
Lynch/Colorectal High Risk Panel
MSH2 Exons 1-7 Inversion Analysis

APC, ATM, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, POLD1, POLE, PMS2, PTEN, SCG5/GREM1, SMAD4, STK11, TP53, XRCC2

Heritable Disorders of Connective Tissue (HDCT)

J555

Heritable Disorders of Connective Tissue Sequencing and Del/Dup Panel  ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, CBS, CHST14, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14 , FLNA, LTBP4, MAT2A, MED12, MFAP5 , MYH11, MYLK , NOTCH1, PLOD1 , PRDM5, PRKG1 , PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469
Hereditary Endometrial Cancer B344-3 Endometrial Cancer Panel BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, TP53
Hereditary Hemorrhagic Telangiectasia (HHT)  697  Hereditary Hemorrhagic Telangiectasia Panel ACVRL1, ENG, GDF2, RASA1, SMAD4
Hereditary Multiple Exostoses 1813 EXT1 & EXT2 Sequencing & Del/Dup EXT1, EXT2
Hereditary Multiple Exostoses 1811 HME Tier 1 Sequencing & Del/Dup EXT1, EXT2
Hereditary Multiple Exostoses 1812 HME Tier 2  Sequencing EXT2
Hereditary Neuropathy

 

737
884
885
886
888

 

Hereditary Neuropathy Panel
Core CMT Panel
Axonal CMT Panel
Demyelinating CMT Panel
PMP22 Gene Sequencing

AARS, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, HSPB1, HSPB8, IGHMBP2, IKBKAP, KIF1A, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, SBF2, SCN9A, SH3TC2, SLC12A6, SPTLC1, SPTLC2, TFG, TRPV4, TTR, WNK1
Hereditary Pancreatic Cancer B343 Pancreatic Cancer Panel APC, ATM, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL, XRCC2
Hereditary PGL/PCC B395  PGL/PCC (Paraganglioma/Pheochromocytoma) Panel FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEN127, VHL

Hereditary Prostate Cancer

J665 Prostate Cancer Panel ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, TP53
Hereditary Renal Cancer B394 Renal Cancer Panel BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL
Hermansky-Pudlak Syndrome 189 HPS3 Mutation Analysis (Ashkenazi Jewish) HPS3
Hermansky-Pudlak Syndrome 188 HPS1 & HPS3 Mutation Analysis (Puerto Rican) HPS1, HPS3
High/Moderate Risk Panel (Oncology)

B751

High/Moderate Risk Panel 

APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL
Hirschsprung Disease

2351

906

RET Select Exons Sequencing (HSCR)

RET Del/Dup

RET
Hirschsprung Disease

2352

906

RET Remaining Exons Sequencing (HSCR)

RET Del/Dup

RET
Holoprosencephaly 2371 Holoprosencephaly Sequencing & Del/Dup Panel SHH, SIX3, TGIF, ZIC2
Holoprosencephaly 2373 Prenatal Holoprosencephaly Sequencing & Del/Dup Panel SHH, SIX3, TGIF, ZIC2
Hydrocephalus, XL

2551E

906

L1CAM Gene Sequencing & Del/Dup (Females)

L1CAM Del/Dup

L1CAM
Hydrocephalus, XL 2553E Prenatal L1CAM Gene Sequencing & Del/Dup (Females) L1CAM
Hydrocephalus, XL

2551

906

L1CAM Gene Sequencing (Males)

L1CAM Del/Dup

L1CAM
Hydrocephalus, XL 2553 Prenatal L1CAM Gene Sequencing (Males) L1CAM
Hyper IgD Syndrome

216

906

MVK Select Exons Sequencing

MVK Del/Dup

MVK
Hyper IgD Syndrome

2161

906

MVK Remaining Exons Sequencing

MVK Del/Dup

MVK
Hyper IgE Syndrome (HIES)

678

Hyper-IgE Syndromes Panel

DOCK8, SPINK5, STAT3, TYK2
Hyperammonemia Related Disorders

665

684

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, TMEM70
Hypertrophic Cardiomyopathy J553 HCM Sequencing and Del/Dup Panel ACTC1, ACTN2, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, MTTG, MTTI, MTTK, MTTQ, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
Hypophosphatemic Rickets, AD 184 FGF23 Gene Sequencing FGF23
Hypophosphatemic Rickets, XL

1861E

906

PHEX Gene Sequencing & Del/Dup (Females)

PHEX Del/Dup

PHEX
Hypophosphatemic Rickets, XL

1861

906

PHEX Gene Sequencing (Males)

PHEX Del/Dup

PHEX
Hypogonadotrophic Hypogonadism (HH)

676

Hypogonadotrophic Hypogonadism Gene Sequencing and Del/Dup Panel

CHD7, FGF8, FGFR1, GNRH1, GNRHR, KAL1, KISS1, KISS1R, NR0B1, NSMF (NELF), PROK2, PROKR2, TAC3, TACR3
Loeys Dietz Syndrome & Related Disorders 918
597
458
FBN1 Sequencing & Deletion/Duplication
Marfan Syndrome/TAAD Sequencing Panel
Marfan Syndrome/TAAD Del/Dup
FBN1
ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2
Lamellar Ichthyosis Type 1 125 TGM1 Gene Sequencing TGM1
Long QT Syndrome

727

LQTS Gene Sequencing & Del/Dup Panel

AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN
Marfan Syndrome and Related Disorders

918

 

 

883

FBN1 Sequencing & Deletion/Duplication

 

 


Marfan Syndrome/TAAD Sequencing and Del/Dup Panel

FBN1

ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MAT2A, MED12, MFAP5 , MYH11, MYLK , NOTCH1, PRKG1 , SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2

Methylmalonic Acidemia

667

685

Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel

Reflex Del/Dup Testing After MMA and Related Disorders Panel

ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MTR, MTRR, MUT, SUCLA2, SUCLG1
Mitochondrial Disorders

554
615
573
575
576
577
578
938

Mitochondrial Genome Sequencing and Deletion Test (MitoGenome)
Combined Mito Genome Plus Mito Nuclear Gene Panel (319 Genes + Mito Genome)
Comprehensive Mitochondrial Nuclear Gene Panel (319 Genes)
Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel (146 Genes)
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel (153 Genes)
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Pane (55)
Methylglutaconic Aciduria Nuclear Gene Panel (13 Genes)
Congenital Sideroblastic Anemia Panel (8 Genes)

Click on test in the left column for genes. 
Maturity-Onset Diabetes of the Young (MODY)

674

MODY Sequencing Panel

GCK, HNF1A, HNF1B, HNF4A, PDX1
Mucolipidosis IV

2431

906

MCOLN1 Mutation Analysis (Ashkenazi Jewish)

MCOLN1 Del/Dup

MCOLN1
Multiple Endocrine Neoplasia 2A

177

906

RET Select Exons Sequencing (MEN2A)

RET Del/Dup

RET
Multiple Endocrine Neoplasia 2A 1791 RET Remaining Exons Sequencing (MEN2A) RET
Multiple Endocrine Neoplasia 2A; Multiple Endocrine Neoplasia 2B

1793

1771

RET Remaining Exons Sequencing (MEN2A & MEN2B)

RET Gene Sequencing

RET
Multiple Endocrine Neoplasia 2B 178 RET Select Exons Sequencing (MEN2B) RET
Multiple Endocrine Neoplasia 2B 1792 RET Remaining Exons Sequencing (MEN2B) RET
Multiple Endocrine Neoplasia Type 1

176

906

MEN1 Gene Sequencing

MEN1 Del/Dup

MEN1
Multiple Epiphyseal Dypslasia; Pseudoachondroplasia

249

906

COMP Gene Sequencing

COMP Del/Dup

COMP
Myotonic Dystrophy 1

818

DMPK Repeat Analysis

DMPK
Myotonic Dystrophy 2

819

CNBP Repeat Analysis

CNBP
Neurofibromatosis

962
963
961

NF1 Panel
NF2 Panel
Comprehensive NF Panel

NF1, SPRED1
NF2, SMARCB1
NF1, NF2, SMARCB1, SPRED1

Neuromuscular Disorders

889

890

891

892

893

Neuromuscular Disorders Panel

Limb-Girdle Muscular Dystrophy Panel

Syndromic Congenital Muscular Dystrophy Panel

Congenital Myopathies & Muscular Dystrophies Panel

Myofibrillar Myopathy Panel

ACTA1, ANO5, ATP2A1, B3GALNT2, BAG3 , BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHKB, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB , DAG1, DES, DMD, DNAJB6, DNM2 , DPM1, DPM2, DPM3, DYNC1H1 , DYSF, EMD, FHL1, FKRP, FKTN, FLCN, GAA, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, LAMA2, LAMP2, LARGE, LDB3 (ZASP), LMNA, MEGF10, MTM1, MYH7, MYOT, NEB, PLEC1, PLEKHG5 , POMGNT1, POMT1, POMT2, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4 , TTN, UBA1, VRK1
Nemaline Myopathy 244 ACTA1 Gene Sequencing ACTA1
Non-Epidermolytic Palmoplantar Keratoderma (NEPPK) 2123 KRT16 Gene Sequencing KRT16
Non-Epidermolytic Palmoplantar Keratoderma (NEPPK) 2122 KRT1 Gene Sequencing KRT1
Noonan-Related Disorders 534

 

357

Noonan Spectrum Disorders Sequencing Panel

 

 

Prenatal Noonan Spectrum Disorders Sequencing Panel

A2ML1, ACTB, ACTG1, BRAF, CBL, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1

 

 

BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, EXON 2 OF SHOC2

OncoGeneDx Custom Panel B749-3 OncoGeneDx Custom Panel ALK, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73,  CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FH, FLCN, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PHOX2B, PMS2, POLD1, POLE, PRKAR1A, PTCH1,  PTEN, RAD51C, RAD51D, RB1, RET, SCG5/GREM1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1,  STK11, SUFU,  TMEM127, TP53, TSC1, TSC2, VHL, WT1,  XRCC2
Pachyonychia Congenita Type 1 2091 KRT6A, KRT16 Hot Spots Sequencing KRT6A, KRT16
Pachyonychia Congenita Type 1 2093 KRT16 Gene Sequencing (PC1) KRT16
Pachyonychia Congenita Type 1 2094 KRT6A Gene Sequencing KRT6A
Pachyonychia Congenita Type 1 2121 KRT16 Hot Spots Sequencing KRT16
Pachyonychia Congenita Type 2 2092 KRT6B, KRT17 Hot Spots Sequencing KRT6B, KRT17
Pachyonychia Congenita Type 2 2095 KRT17 Gene Sequencing KRT17
Pachyonychia Congenita Type 2 2096 KRT6B Gene Sequencing KRT6B
Peutz-Jeughers Syndrome 2071 STK11 Gene Sequencing & Del/Dup STK11
Periodic Fever Syndromes

367

Periodic Fever Syndromes Panel

ELANE (ELA2), LPIN2, MEFV, MVK, NLRP3 (CIAS1), PSTPIP1, TNFRSF1A
Popliteal Pterygium SyndromeVan der Woude Syndrome

253

906

IRF6 Gene Sequencing

IRF6 Del/Dup

IRF6
Popliteal Pterygium Syndrome 248 IRF6 Exon 4 Sequencing IRF6
Premature Ovarian Failure (POF) 677 Premature Ovarian Failure Sequencing Panel  BMP15, CYP17A1, CYP19A1, FIGLA, FSHR, GDF9, LHCGR, NOBOX, NR5A1, POR, PSMC3IP
Pseudo-Vitamin D-Deficiency Rickets 185 CYP27B1 Gene Sequencing CYP27B1
PTEN-Related Disorders / PTEN Hamartoma Tumor Syndrome 195 PTEN Gene Sequencing & Del/Dup PTEN
Pulmonary Arterial Hypertension (PAH)  696  Pulmonary Arterial Hypertension Panel ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, GDF2, SMAD9
Rapid Aneuploidy FISH
(13, 18, 21, X, Y)

433

Rapid Aneuploidy FISH

Chromosomal abnormalities in chromosomes 13, 18, 21, X, Y
Severe Combined Immune Deficiency (SCID), DCLRE1C Type; Omenn Syndrome

1501

906

DCLRE1C Gene Sequencing & Deletion

DCLRE1C Del/Dup

DCLRE1C (ARTEMIS)
Severe Combined Immune Deficiency (SCID), DCLRE1C Type; Omenn Syndrome 1502 DCLRE1C Athabascan mutation DCLRE1C (ARTEMIS)
Severe Combined Immune Deficiency (SCID), JAK 3 Type

145

906

JAK3 Gene Sequencing

JAK3 Del/Dup

JAK3
Short QT Syndrome (SQTS)  J551  SQTS Sequencing and Del/Dup Panel CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1
Shwachman-Diamond Syndrome 109 SBDS Gene Sequencing SBDS
Sjogren Larsson Syndrome

128

906

ALDH3A2 Gene Sequencing

ALDH3A2 Del/Dup

ALDH3A2
Spinal & Bulbar Muscular Atrophy

820

AR Repeat Analysis

AR

Sudden Cardiac Arrest

Sudden Unexplained Death

J552

SCA Arrhythmia Sequencing and Del/Dup Panel ANK2, CALM1, CALM2, CALM3, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A
Thoracic Aortic Aneurysm and Dissection (TAAD)

918
597
458

FBN1 Sequencing & Deletion/Duplication
Marfan Syndrome/TAAD Sequencing Panel
Marfan Syndrome/TAAD Del/Dup

FBN1
ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2

TNF Receptor-Associated-Periodic Syndrome (TRAPS) 215 TNFRSF1A Select Exons Sequencing TNFRSF1A
Tuberous Sclerosis Complex (TSC) 730 Tuberous Sclerosis Panel TSC1, TSC2
Urea Cycle Disorders

665

684

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, TMEM70
Vohwinkel Syndrome; Keratitis-Ichthyosis-Deafness syndrome (KID syndrome) 130 GJB2 Gene Sequencing GJB2
Zygosity Testing 437 Zygosity Testing 11 simple tandem repeats (STRs)

 

 

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