Exome & General Genetics

Tests and Gene Information

Click on the disease or category below to see all genes that appear on the test.

  • Exome & Microarray
    • ExomeNext-Proband

      Gene List

      5000

    • ExomeNext-Proband plus mtDNA

      Gene List

      5000

    • ExomeNext-Trio

      Gene List

      Whole Exome

    • ExomeNext-Trio plus mtDNA

      Gene List

      Whole Exome

    • ExomeNext-Rapid

      Gene List

      Whole Exome

    • ExomeNext-Select

      Gene List

      500

    • SNP Array

      Gene List

      Whole Genome

    • Karyotype

      Gene List

      Whole Genome

  • Endocrinology
    • Hereditary leiomyomatosis and renal cell carcinoma

      Gene List

      FH

    • MODY panel

      Gene List

      GCK, HNF1A, HNF1B, HNF4A, PDX1

    • Multiple endocrine neoplasia type 1

      Gene List

      MEN1

    • Multiple endocrine neoplasia type 2 and familial medullary thyroid cancer

      Gene List

      RET

    • Multiple endocrine neoplasia type 4

      Gene List

      CDKN1B

    • PGLNext

      Testing for hereditary endocrine cancers, including genes linked to a higher chance to develop rare tumors known as paragangliomoas and/or pheochromocytomas 

      Gene List

      FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

    • von Hippel-Lindau disease

      Gene List

      VHL

  • Gastroenterology
    • Cystic fibrosis

      Gene List

      CFTR

    • RET-related Hirschsprung disease

      Gene List

      RET

    • Juvenile polyposis syndrome

      Gene List

      BMPR1A, SMAD4

    • Pancreatitis panel

      Gene List

      CFTR, CTRC, PRSS1, SPINK1

    • PancNext plus Pancreatitis

      Testing for hereditary pancreatic cancer, including genes linked to a higher chance to develop pancreatic and/or other cancers

      Gene List

      APC, ATM, BRCA1, BRCA2, CDKN2A, CFTR, CTRC, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, SPINK1, STK11, TP53

    • Peutz-Jeghers syndrome

      Gene List

      STK11

  • Multiple Congenital Anomalies
    • SNP Array

      Gene List

      Whole Genome

    • CHARGE syndrome

      A genetic test that identifies CHARGE syndrome, a birth defect disorder.

      Gene List

      CHD7

    • CdLSNext

      Gene List

      HDAC8, NIPBL, RAD21, SMC1A, SMC3

    • Noonan syndrome panel

      Gene List

      KRAS, PTPN11, RAF1, SOS1

  • Hematology
    • DBANext

      Gene List

      RPL11, RPL19, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7

    • DCNext

      Gene List

      DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53

    • HBB-related disorders

      Gene List

      HBB

    • Shwachman-Diamond syndrome

      Gene List

      SBDS

  • Pulmonology
    • Congenital central hypoventilation syndrome

      Gene List

      PHOX2B

    • Cystic fibrosis

      Gene List

      CFTR

    • PCDNext

      A genetic test that identifies primary ciliary dyskinesia, a disorder that causes defects in the action of cilia lining the respiratory tract.

      Gene List

      ARMC4, CCDC103, CCDC114, CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, LRRC6, NME8, OFD1, RPGR, RSPH4A, RSPH9, SPAG1

    • Surfactant dysfunction

      Gene List

      ABCA3, SFTPB, SFTPC

    • Telomere-related pulmonary fibrosis

      Gene List

      TERC, TERT

  • Vascular
    • Ehlers-Danlos, vascular type (EDS IV)

      A genetic test to identify Ehlers-Danlos syndrome, an inherited connective tissue disorder.

      Gene List

      COL3A1

    • HHTNext

      Gene List

      ACVRL1, ENG, GDF2, RASA1, SMAD4

    • TAADNext

      A next generation sequencing panel that analyzes 22 genes associated with thoracic aortic aneurysms and dissections, Marfan syndrome and related disorders that often contribute to sudden cardiac death. The test can confirm a diagnosis and aid in patient management and treatment options.

      Gene List

      ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2

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