Exome & General Genetics

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Compare Tests by Disease

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

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.

Testing Options

ExomeNext-Proband™	Diagnostic exome sequencing of the Proband only	~ 4,500 Genes CHARACTERIZED GENES ONLY	6-8 weeks TURNAROUND TIME	LEARN MORE	ORDER
ExomeNext-Proband plus mtDNA	Diagnostic exome sequencing and mitochondrial genome sequencing of the Proband only	~ 4,500 Genes CHARACTERIZED GENES ONLY	6-8 weeks TURNAROUND TIME	LEARN MORE	ORDER
ExomeNext-Duo™	Diagnostic exome sequencing of the Proband plus one first-degree relative	~ 4,500 Genes CHARACTERIZED GENES ONLY	6-8 weeks TURNAROUND TIME	LEARN MORE	ORDER
ExomeNext-Duo plus mtDNA	Diagnostic exome sequencing and mitochondrial genome sequencing of the Proband plus one first-degree relative	~ 4,500 Genes CHARACTERIZED GENES ONLY	6-8 weeks TURNAROUND TIME	LEARN MORE	ORDER
ExomeNext-Trio™	Diagnostic exome sequencing of the Proband plus two first-degree relatives	~ 20,000 Genes SEE COVERAGE DETAILS	6-8 weeks TURNAROUND TIME	LEARN MORE	ORDER
ExomeNext-Trio plus mtDNA	Diagnostic exome sequencing and mitochondrial genome sequencing of the Proband plus two first-degree relatives	~ 20,000 Genes SEE COVERAGE DETAILS	6-8 weeks TURNAROUND TIME	LEARN MORE	ORDER
ExomeNext-Rapid®	Rapid diagnostic exome sequencing and mitochondrial genome sequencing	~ 20,000 Genes SEE COVERAGE DETAILS	8-14 days TURNAROUND TIME	LEARN MORE	ORDER
ExomeNext-Select	Customizable diagnostic exome sequencing	up to 500 Genes SEE COVERAGE DETAILS	2-4 weeks TURNAROUND TIME	LEARN MORE	ORDER
SNP Array	Chromosomal microarray	Whole Genome	14-21 days TURNAROUND TIME	LEARN MORE	ORDER

Testing Options

Hereditary leiomyomatosis and renal cell carcinoma	Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)	1 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER
MODY panel	Maturity-onset diabetes of the young (MODY)	5 NUMBER OF GENES	4-5 weeks TURNAROUND TIME	LEARN MORE	ORDER
Multiple endocrine neoplasia type 1	Multiple endocrine neoplasia type I (MEN1)	1 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER
Multiple endocrine neoplasia type 2 and familial medullary thyroid cancer	Multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid cancer (FMTC)	1 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER
Neurofibromatosis 1	Neurofibromatosis 1 (NF1)	1 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER
PGLNext®	Includes genes associated with increased risk of developing paragangliomas (PGLs) and/or pheochromocytomas (PCCs)	14 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER
von Hippel-Lindau disease	von Hippel-Lindau disease (VHL)	1 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER

Testing Options

Cystic fibrosis	CFTR gene sequence and deletion/duplication analysis	1 NUMBER OF GENES	5-13 days TURNAROUND TIME	LEARN MORE	ORDER
RET-related Hirschsprung disease	Multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid cancer (FMTC)	1 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER
Juvenile polyposis syndrome	Juvenile polyposis syndrome (JPS)	2 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER
Pancreatitis Panel	Pancreatitis	6 NUMBER OF GENES	2-4 weeks TURNAROUND TIME	LEARN MORE	ORDER
PancNext® plus Pancreatitis	Hereditary Pancreatic Cancer and Pancreatitis	19 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER
Peutz-Jeghers syndrome	Peutz-Jeghers syndrome	1 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER

Testing Options

SNP Array	Chromosomal microarray	Whole Genome	14-21 days TURNAROUND TIME	LEARN MORE	ORDER
NoonanNext™	NoonanNext is a comprehensive analysis of 18 genes associated with Noonan syndrome and related disorders.	18 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER

Testing Options

DBANext™	Diamond-Blackfan anemia	11 NUMBER OF GENES	2-4 weeks TURNAROUND TIME	LEARN MORE	ORDER
DCNext™	Dyskeratosis congenita	7 NUMBER OF GENES	2-4 weeks TURNAROUND TIME	LEARN MORE	ORDER
Shwachman-Diamond syndrome	Shwachman-Diamond syndrome (SDS)	1 NUMBER OF GENES	2-4 weeks TURNAROUND TIME	LEARN MORE	ORDER

Testing Options

Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome (CCHS)	1 NUMBER OF GENES	2-4 weeks TURNAROUND TIME	LEARN MORE	ORDER
Cystic fibrosis	CFTR gene sequence and deletion/duplication analysis	1 NUMBER OF GENES	5-13 days TURNAROUND TIME	LEARN MORE	ORDER
PCDNext®	A genetic test that identifies primary ciliary dyskinesia, a disorder that causes defects in the action of cilia lining the respiratory tract.	21 NUMBER OF GENES	4-5 weeks TURNAROUND TIME	LEARN MORE	ORDER
Surfactant Dysfunction Panel	Includes genes causing respiratory distress syndrome	3 NUMBER OF GENES	5-14 days TURNAROUND TIME	LEARN MORE	ORDER
Telomere-related pulmonary fibrosis	Includes most common genes causing pulmonary fibrosis	2 NUMBER OF GENES	2-4 weeks TURNAROUND TIME	LEARN MORE	ORDER

Testing Options

HHTNext®	Most comprehensive panel for hereditary hemorrhagic telangiectasia (HHT)	6 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER
TAADNext®	Next generation sequencing (NGS) panel that analyzes 35 genes associated with thoracic aortic aneurysms and dissections (TAAD), Marfan syndrome, or related disorders	35 NUMBER OF GENES	14-21 days TURNAROUND TIME	LEARN MORE	ORDER

Testing Options

NephrolithiasisNext Most comprehensive panel for nephrolithiasis and nephrocalcinosis 30
NUMBER OF GENES 2-4 weeks
TURNAROUND TIME LEARN MORE ORDER

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

Highlighted Tests

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

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

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

Testing Options

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

Hematology

Testing Options

Name	TAT	Genes
DBANext™	2-4 weeks	11
DCNext™	2-4 weeks	7
Shwachman-Diamond syndrome	2-4 weeks	1

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

Testing Options

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

Nephrology

Testing Options

Name	TAT	Genes
NephrolithiasisNext	2-4 weeks	30

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