Clinical Genomics

Code Test Genes TAT
9999 ExomeNext® and ExomeReveal® Whole Exome 8-12 weeks
7000 GenomeNext™
 		Whole Exome 5-7 weeks
5490 SNP Array
 		Whole Genome 14-21 days
9900 ExomeNext® (includes Patient Only Chart, Proband, and Relative orders)
 		Whole Exome 3-6 weeks
9990 ExomeReveal™
 		Whole Exome 3-4 weeks
7004 GenomeReveal™
 		Whole Exome 3-4 weeks
6301 FH seq and del/dup
 		FH 5-14 days
2646 MEN1 seq and del/dup
 		MEN1 5-14 days
2680 RET seq
Multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid cancer (FMTC)
 RET-related Hirschsprung disease
 		RET 5-14 days
5704 NF1 seq and del/dup
 		NF1 5-14 days
2606 VHL seq and del/dup
 		VHL 5-14 days
1007 CFTR seq and del/dup
 		CFTR 5-13 days
8604 BMPR1A & SMAD4 seq and del/dup
 		BMPR1A, SMAD4 5-14 days
8022 Pancreatitis Panel
 		CFTR, CPA1, CTRC, PRSS1, SPINK1 2-4 weeks
2766 STK11 seq and del/dup
 		STK11 5-14 days
8402 NoonanNext™
 		BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RIT1, SHOC2, SOS1, SOS2, SPRED1 14-21 days
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

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

  • Highlighted Tests

    • 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® and ExomeReveal®

      The world of genetics and our understanding of genetic causes for disease is rapidly changing. ExomeNext is a comprehensive test analyzing ~ 20,000 genes which has been successful in ending the diagnostic odyssey for about 35% of undiagnosed patients. ExomeReveal inlcudes supplemental RNA analysis. These tests are uniquely positioned to analyze genes that are both related to and outside of the clinician’s differential diagnoses.

      GenomeNext™ and GenomeReveal™

      GenomeNext™ uses whole genome sequencing and advanced bioinformatics analysis to evaluate nuclear genes, mitochondrial DNA, and additional genomic regions beyond the coding regions assessed by exome sequencing.

      SNP Array

      SNP Array (chromosomal microarray) is useful in the postnatal evaluation of individuals with multiple congenital anomalies, developmental delay/intellectual disability and autism spectrum disorders.

  • Clinical Genomics

    • Clinical Genomics

      Testing Options

      Name TAT Genes
      ExomeNext® (includes Patient Only Chart, Proband, and Relative orders) 3-6 weeks ~ 20,000
      ExomeReveal™ 3-4 weeks ~ 20,000
      GenomeReveal™ 3-4 weeks ~ 20,000
      GenomeNext™ 5-7 weeks ~ 20,000
      SNP Array 14-21 days Whole Genome
  • Endocrinology

    • Endocrinology

      Testing Options

      Name TAT Genes
      Hereditary leiomyomatosis and renal cell carcinoma 5-14 days 1
      Multiple endocrine neoplasia type 1 5-14 days 1
      Multiple endocrine neoplasia type 2 and familial medullary thyroid cancer 5-14 days 1
      Neurofibromatosis 1 5-14 days 1
      von Hippel-Lindau disease 5-14 days 1
  • Gastroenterology

    • Gastroenterology

      Testing Options

      Name TAT Genes
      Cystic fibrosis 5-13 days 1
      RET-related Hirschsprung disease 5-14 days 1
      Juvenile polyposis syndrome 5-14 days 2
      Pancreatitis Panel 2-4 weeks 5
      Peutz-Jeghers syndrome 5-14 days 1
  • Multiple Congenital Anomalies

    • Multiple Congenital Anomalies

      Testing Options

      Name TAT Genes
      SNP Array 14-21 days Whole Genome
      NoonanNext™ 14-21 days 18
  • Hematology

    • Hematology

      Testing Options

      Name TAT Genes
      Shwachman-Diamond syndrome 2-4 weeks 1
  • Pulmonology

    • 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

    • Vascular

      Testing Options

      Name TAT Genes
      HHTNext® 14-21 days 6
      TAADNext® 14-21 days 35

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