Exome & General Genetics

Code Test Genes TAT
9999 ExomeNext® Whole Exome 8-12 weeks
5490 SNP Array
Whole Genome 14-21 days
9993 ExomeNext-Proband™
4500 6-8 weeks
9994 ExomeNext-Proband plus mtDNA
4500 6-8 weeks
9991 ExomeNext-Duo™
4500 6-8 weeks
9992 ExomeNext-Duo plus mtDNA
4500 6-8 weeks
9995 ExomeNext-Trio™
Whole Exome 6-8 weeks
9996 ExomeNext-Trio plus mtDNA
Whole Exome 6-8 weeks
9999R ExomeNext-Rapid®
Whole Exome 8-14 days
9500 ExomeNext-Select
500 2-4 weeks
6301 FH seq and del/dup
FH 14-21 days
8310 MODY seq and del/dup
GCK, HNF1A, HNF1B, HNF4A, PDX1 4-5 weeks
2646 MEN1 seq and del/dup
MEN1 14-21 days
2680 RET seq
Multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid cancer (FMTC)
RET-related Hirschsprung disease
RET 14-21 days
5704 NF1 seq and del/dup
NF1 14-21 days
5504 PGLNext®
EGLN1, FH, KIF1B, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL 14-21 days
2606 VHL seq and del/dup
VHL 14-21 days
1007 CFTR seq and del/dup
CFTR 5-13 days
8604 BMPR1A & SMAD4 seq and del/dup
BMPR1A, SMAD4 14-21 days
8022 Pancreatitis Panel
CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1 2-4 weeks
8064 PancNext® plus Pancreatitis
APC, ATM, BRCA1, BRCA2, CASR, CDKN2A, CFTR, CPA1, CTRC, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, SPINK1, STK11, TP53 14-21 days
2766 STK11 seq and del/dup
STK11 14-21 days
8402 NoonanNext™
BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RIT1, SHOC2, SOS1, SOS2, SPRED1 14-21 days
8550 DBANext™
RPL11, RPL19, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7 2-4 weeks
8161 DCNext seq and del/dup
DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53 2-4 weeks
1440 SBDS seq
SBDS 2-4 weeks
1580 PHOX2B seq
PHOX2B 2-4 weeks
8122 PCDNext®
ARMC4, CCDC103, CCDC114, CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, LRRC6, NME8, OFD1, RPGR, RSPH4A, RSPH9, SPAG1 4-5 weeks
8100 Surfactant Dysfunction Panel
ABCA3, SFTPB, SFTPC 5-14 days
8140 TERT/TERC seq and del/dup
TERC, TERT 2-4 weeks
8672 HHTNext®
ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4 14-21 days
8789 TAADNext®
ACTA2, BGN, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FKBP14, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 14-21 days
9580 NephrolithiasisNext
AGXT, ALPL, APRT, ATP6V0A4, ATP6V1B1, BSND, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GRHPR, HOGA1, HPRT1, KCNJ1, MOCOS, OCRL, PRPS1, SLC12A1, SLC22A12, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, UMOD, XDH 2-4 weeks

Please select a category to find your test or learn more about our highlighted tests below

  • Highlighted Tests
  • Exome & Microarray
    • Testing Options
      • Name TAT Genes
        ExomeNext-Proband™ 6-8 weeks ~ 4,500 genes
        ExomeNext-Proband plus mtDNA 6-8 weeks ~ 4,500 genes
        ExomeNext-Duo™ 6-8 weeks ~ 4,500 genes
        ExomeNext-Duo plus mtDNA 6-8 weeks ~ 4,500 genes
        ExomeNext-Trio™ 6-8 weeks ~ 20,000 Genes
        ExomeNext-Trio plus mtDNA 6-8 weeks ~ 20,000 Genes
        ExomeNext-Rapid® 8-14 days ~ 20,000 Genes
        ExomeNext-Select 2-4 weeks up to 500 genes
        SNP Array 14-21 days Whole Genome
  • Endocrinology
    • Testing Options
      • Name TAT Genes
        Hereditary leiomyomatosis and renal cell carcinoma 14-21 days 1
        MODY panel 4-5 weeks 5
        Multiple endocrine neoplasia type 1 14-21 days 1
        Multiple endocrine neoplasia type 2 and familial medullary thyroid cancer 14-21 days 1
        Neurofibromatosis 1 14-21 days 1
        PGLNext® 14-21 days 14
        von Hippel-Lindau disease 14-21 days 1
  • Gastroenterology
    • Testing Options
      • Name TAT Genes
        Cystic fibrosis 5-13 days 1
        RET-related Hirschsprung disease 14-21 days 1
        Juvenile polyposis syndrome 14-21 days 2
        Pancreatitis Panel 2-4 weeks 6
        PancNext® plus Pancreatitis 14-21 days 19
        Peutz-Jeghers syndrome 14-21 days 1
  • Multiple Congenital Anomalies
    • Testing Options
      • Name TAT Genes
        SNP Array 14-21 days Whole Genome
        NoonanNext™ 14-21 days 18
  • Hematology
    • Testing Options
      • Name TAT Genes
        DBANext™ 2-4 weeks 11
        DCNext™ 2-4 weeks 7
        Shwachman-Diamond syndrome 2-4 weeks 1
  • Pulmonology
    • Testing Options
      • Name TAT Genes
        Congenital central hypoventilation syndrome 2-4 weeks 1
        Cystic fibrosis 5-13 days 1
        PCDNext® 4-5 weeks 21
        Surfactant Dysfunction Panel 5-14 days 3
        Telomere-related pulmonary fibrosis 2-4 weeks 2
  • Vascular
    • Testing Options
      • Name TAT Genes
        HHTNext® 14-21 days 6
        TAADNext® 14-21 days 35
  • Nephrology

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