Exome & General Genetics

Being diagnosed with a hereditary condition can be scary. That’s why early detection is so important and can make all the difference in the world when it comes to getting in front of a disease.

Know The Basics

Uncovering the genetic causes of disease is at the heart of everything we do at Ambry. That’s why we were the first lab to offer whole exome sequencing. Through Whole Exome Sequencing, (WES), we can identify certain underlying genetic mutations and thereby understand disease better.

By sequencing the whole exome, we are able to look at the part of our DNA where trouble may be lurking. This protein-coding region of our DNA is where 85% of known genetic variations reside and may indicate a disease-causing mutation. Answers can be found in a matter of weeks, helping clinicians to treat their patients quicker, bringing answers at a time when answers are desperately needed.

Tests and Gene Information

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

  • Exome & Microarray
    • ExomeNext

      Gene List

      Whole Exome

    • ExomeNext-Rapid

      Gene List

      Whole Exome

    • ExomeNext-Prenatal

      Gene List

      Whole Exome

    • ExomeNext-Select

      Gene List

      500

    • SNP Array

      Gene List

      Whole Genome

    • Karyotype

      Gene List

      Whole Genome

  • Endocrinology
    • Carney complex

      Gene List

      PRKAR1A

    • 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

    • Neurofibromatosis 1

      Gene List

      NF1, SPRED1

    • 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
    • Alagille syndrome

      A genetic test that identifies Alagille syndrome, a disorder that can affect the liver, heart, and other parts of the body.  

      Gene List

      JAG1

    • Alpha-1 antitrypsin deficiency

      Gene List

      SERPINA1

    • 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

    • Peutz-Jeghers syndrome

      Gene List

      STK11

    • Wilson disease

      Gene List

      ATP7B

  • Multiple Congenital Anomalies
    • SNP Array

      Gene List

      Whole Genome

    • Alagille syndrome

      A genetic test that identifies Alagille syndrome, a disorder that can affect the liver, heart, and other parts of the body.  

      Gene List

      JAG1

    • Angelman syndrome

      Gene List

      SNRPN, UBE3A

    • CHARGE syndrome

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

      Gene List

      CHD7

    • Coffin-Lowry Syndrome

      Gene List

      RPS6KA3

    • CdLSNext

      Gene List

      HDAC8, NIPBL, RAD21, SMC1A, SMC3

    • Kleefstra syndrome

      Gene List

      EHMT1

    • Lowe syndrome

      Gene List

      OCRL

    • Noonan syndrome panel

      Gene List

      KRAS, PTPN11, RAF1, SOS1

    • Oral-facial-digital syndrome

      Gene List

      OFD1

    • Prader-Willi syndrome

      Gene List

      SNRPN

    • Rubinstein-Taybi syndrome

      Gene List

      CREBBP

    • Simpson-Golabi-Behmel syndrome

      Gene List

      GPC3

    • Smith-Lemli-Opitz syndrome

      Gene List

      DHCR7

    • Smith-Magenis syndrome

      Gene List

      RAI1

    • Sotos syndrome

      Gene List

      NSD1

  • 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

  • Inherited Metabolic Disorders
    • Canavan disease

      Gene List

      ASPA

    • Pelizaeus-Merzbacher disease

      Gene List

      PLP1

    • X-linked adrenoleukodystrophy

      Gene List

      ABCD1

    • NCLNext

      Gene List

      ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1

    • CLN3

      Gene List

      CLN3

    • CTSD

      Gene List

      CTSD

    • PPT1

      Gene List

      PPT1

    • TPP1

      Gene List

      TPP1

    • Gaucher disease

      Gene List

      GBA

    • Hunter syndrome

      Gene List

      IDS

    • Niemann-Pick disease, type C

      Gene List

      NPC1, NPC2

    • Tay-Sachs disease

      Gene List

      HEXA

    • Lesch-Nyhan syndrome

      Gene List

      HPRT1

    • Menkes and related syndromes

      Gene List

      ATP7A

    • Ornithine transcarbamylase deficiency

      Gene List

      OTC

    • Wilson disease

      Gene List

      ATP7B

  • Pulmonology
    • Alpha-1 antitrypsin deficiency

      Gene List

      SERPINA1

    • 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

  • Rheumatology
    • Familial Mediterranean fever

      Gene List

      MEFV

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

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

      Gene List

      COL3A1

    • HHTFirst

      Gene List

      ACVRL1, ENG, SMAD4

    • HHTNext

      Gene List

      ACVRL1, ENG, GDF2, RASA1, SMAD4

    • HHTReflex

      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

  • Allergy and Immunology
    • Hereditary Angioedema

      Gene List

      SERPING1

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