Exome & General Genetics

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

  • Exome & Microarray
    • Testing Options
      • Name TAT Genes
        ExomeNext 8-12 weeks Whole Exome
        ExomeNext-Rapid 8-14 days Whole Exome
        ExomeNext-Prenatal 3-4 weeks Whole Exome
        ExomeNext-Select 8-12 weeks up to 500 genes, partial exome
        SNP Array 14-21 days Whole Genome
        Karyotype 7-21 days Whole Genome
  • Endocrinology
    • Testing Options
      • Name TAT Genes
        Carney complex 14-21 days 1
        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
        Multiple endocrine neoplasia type 4 14-21 days 1
        Neurofibromatosis 1 14-21 days 2
        PGLNext 14-21 days 12
        von Hippel-Lindau disease 14-21 days 1
  • Gastroenterology
    • Testing Options
      • Name TAT Genes
        Alagille syndrome 2-4 weeks 1
        Alpha-1 antitrypsin deficiency 2-4 weeks 1
        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 4
        Peutz-Jeghers syndrome 14-21 days 1
        Wilson disease 2-4 weeks 1
  • Multiple Congenital Anomalies
    • Testing Options
      • Name TAT Genes
        SNP Array 14-21 days Whole Genome
        Alagille syndrome 2-4 weeks 1
        Angelman syndrome 2-4 weeks 2
        CHARGE syndrome 2-4 weeks 1
        Coffin-Lowry Syndrome 2-4 weeks 1
        CdLSNext 2-4 weeks 5
        Kleefstra syndrome 2-4 weeks 1
        Lowe syndrome 2-4 weeks 1
        Noonan syndrome panel 2-4 weeks 4
        Oral-facial-digital syndrome 2-4 weeks 1
        Prader-Willi syndrome 7-14 days 1
        Rubinstein-Taybi syndrome 2-4 weeks 1
        Simpson-Golabi-Behmel syndrome 2-4 weeks 1
        Smith-Lemli-Opitz syndrome 2-4 weeks 1
        Smith-Magenis syndrome 2-4 weeks 1
        Sotos syndrome 2-4 weeks 1
  • Hematology
    • Testing Options
      • Name TAT Genes
        DBANext 2-4 weeks 11
        DCNext 2-4 weeks 7
        HBB-related disorders 2-4 weeks 1
        Shwachman-Diamond syndrome 2-4 weeks 1
  • Inherited Metabolic Disorders
    • Leukodystrophies
      • Name TAT Genes
        Canavan disease 2-4 weeks 1
        Pelizaeus-Merzbacher disease 2-4 weeks 1
        X-linked adrenoleukodystrophy 2-4 weeks 1
    • Lysosomal Storage Disorders
      • Name TAT Genes
        NCLNext 4-6 weeks 13
        CLN3 2-4 weeks 1
        CTSD 2-4 weeks 1
        PPT1 2-4 weeks 1
        TPP1 2-4 weeks 1
        Gaucher disease 2-4 weeks 1
        Hunter syndrome 2-4 weeks 1
        Niemann-Pick disease, type C 2-4 weeks 2
        Tay-Sachs disease 2-4 weeks 1
    • Other
      • Name TAT Genes
        Lesch-Nyhan syndrome 2-4 weeks 1
        Menkes and related syndromes 2-4 weeks 1
        Ornithine transcarbamylase deficiency 2-4 weeks 1
        Wilson disease 2-4 weeks 1
  • Pulmonology
    • Testing Options
      • Name TAT Genes
        Alpha-1 antitrypsin deficiency 2-4 weeks 1
        Congenital central hypoventilation syndrome 2-4 weeks 1
        Cystic fibrosis 5-13 days 1
        PCDNext 4-5 weeks 21
        Surfactant dysfunction 5-14 days 3
        Telomere-related pulmonary fibrosis 2-4 weeks 2
  • Rheumatology
  • Vascular
    • Testing Options
      • Name TAT Genes
        Ehlers-Danlos, vascular type (EDS IV) 2-4 weeks 1
        HHTFirst 14-21 days 3
        HHTNext 14-21 days 5
        HHTReflex 2-4 weeks 5
        TAADNext 2-4 weeks 22
  • Allergy and Immunology

why choose ambry

Clearly identifying the genetic cause of a condition allows clinicians to accurately manage a patient’s healthcare as well as provide counseling for the family. That’s why Ambry was the first lab to provide CLIA-approved exome services for applications in clinical diagnostics, with a focus on novel findings. Our clinical genetic and exome testing offer the most comprehensive results in a timely, cost-effective manner using advanced technology and our state of the art bioinformatics pipeline.

Choose from one of our more frequently ordered tests listed below.

ExomeNext®

The world of genetics and our understanding of genetic causes for disease is rapidly changing. ExomeNext is a comprehensive test analyzing all 20,000 genes which has been successful in ending the diagnostic odyssey for 30% of undiagnosed patients. ExomeNext is uniquely positioned to analyze genes that are both related to and outside of the clinician's differential diagnoses.

SNP Array

SNP Array (chromosomal microarray) is useful for identifying slight variation and is recommended as a first-tier genetic test. It is often used in the postnatal evaluation of individuals with multiple congenital anomalies, developmental delay/intellectual disability and autism spectrum disorders. As a cost-effective approach for other diagnoses including chronic kidney disease, congenital heart defects, and infantile spasms, our SNP Array is your first line of defense when it comes to identifying these disorders.

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