Offering the complete gene list on the ACMG guidelines for reporting secondary findings

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

    • 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.

  • Exome & Microarray

    • 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

    • 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

    • 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

    • 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
      DBANext™ 2-4 weeks 11
      DCNext™ 2-4 weeks 7
      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
  • Nephrology

    • Nephrology

      Testing Options

      Name TAT Genes
      NephrolithiasisNext 2-4 weeks 30

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