Exome & General Genetics

Code Test Genes TAT
3662 Chromosome analysis - mosaicism study Whole Genome 7-21 days
9999R ExomeNext-Rapid Whole Exome 8-14 days
9999P ExomeNext-Prenatal Whole Exome 3-4 weeks
9500 ExomeNext-Select 500 8-12 weeks
9999 ExomeNext Whole Exome 8-12 weeks
5490 SNP Array Whole Genome 14-21 days
9022 CDKN1B seq and del/dup CDKN1B 14-21 days
9038 PRKAR1A seq and del/dup PRKAR1A 14-21 days
8100 Surfactant Panel ABCA3, SFTPB, SFTPC 5-14 days
8789 TAADNext ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 2-4 weeks
8671 HHT Reflex ACVRL1, ENG, GDF2, RASA1, SMAD4 2-4 weeks
8672 HHTNext ACVRL1, ENG, GDF2, RASA1, SMAD4 14-21 days
8673 HHTFirst ACVRL1, ENG, SMAD4 14-21 days
8122 PCD Panel ARMC4, CCDC103, CCDC114, CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, LRRC6, NME8, OFD1, RPGR, RSPH4A, RSPH9, SPAG1 4-5 weeks
8604 BMPR1A & SMAD4 seq and del/dup BMPR1A, SMAD4 14-21 days
8022 Pancreatitis Panel CFTR, CTRC, PRSS1, SPINK1 2-4 weeks
8790 COL3A1 seq and del/dup COL3A1 2-4 weeks
8161 DCNext seq and del/dup DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53 2-4 weeks
8310 MODY seq and del/dup GCK, HNF1A, HNF1B, HNF4A, PDX1 4-5 weeks
8402 Noonan Syndrome seq KRAS, PTPN11, RAF1, SOS1 2-4 weeks
8740 NPC1/2 seq and del/dup NPC1, NPC2 2-4 weeks
8550 DBANext RPL11, RPL19, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7 2-4 weeks
8140 TERT/TERC seq and del/dup TERC, TERT 2-4 weeks
7054 CLN3 seq and del/dup CLN3 2-4 weeks
7083 CREBBP seq and del/dup CREBBP 2-4 weeks
7052 CTSD seq and del/dup CTSD 2-4 weeks
7095 EHMT1 seq and del/dup EHMT1 2-4 weeks
7040 CdLSNext seq and del/dup
Cornelia de Lange syndrome
CdLSNext
HDAC8, NIPBL, RAD21, SMC1A, SMC3 2-4 weeks
7143 NSD1 seq and del/dup NSD1 2-4 weeks
7050 PPT1 seq and del/dup PPT1 2-4 weeks
7163 RAI1 seq and del/dup RAI1 2-4 weeks
7029 Angelman syndrome
Angelman syndrome
Rett/AngelmanNext
SNRPN, UBE3A 2-4 weeks
7051 TPP1 seq and del/dup TPP1 2-4 weeks
7025 NCLNext ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1 4-6 weeks
6301 FH seq and del/dup FH 14-21 days
5504 PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL 14-21 days
5728 NF1 & SPRED1 seq and del/dup NF1, SPRED1 14-21 days
3760 ABCD1 seq and del/dup ABCD1 2-4 weeks
3800 ATP7A seq and del/dup ATP7A 2-4 weeks
4420 GPC3 seq and del/dup GPC3 2-4 weeks
3940 HPRT1 seq and del/dup HPRT1 2-4 weeks
5000 MEFV seq and del/dup MEFV 2-4 weeks
4600 OCRL seq and del/dup OCRL 2-4 weeks
4080 OFD1 seq and del/dup OFD1 2-4 weeks
4100 OTC seq and del/dup OTC 2-4 weeks
4180 PLP1 seq and del/dup PLP1 2-4 weeks
4240 RPS6KA3 seq and del/dup RPS6KA3 2-4 weeks
1226 ASPA seq and del/dup ASPA 2-4 weeks
1840 ATP7B seq ATP7B 2-4 weeks
1007 CFTR seq and del/dup CFTR 5-13 days
2380 CHD7 seq and del/dup CHD7 2-4 weeks
2180 DHCR7 seq and del/dup DHCR7 2-4 weeks
1820 GBA seq GBA 2-4 weeks
1048 HBB seq and del/dup HBB 2-4 weeks
1240 HEXA seq HEXA 2-4 weeks
1940 IDS seq and del/dup IDS 2-4 weeks
1640 JAG1 seq and del/dup JAG1 2-4 weeks
2646 MEN1 seq and del/dup MEN1 14-21 days
1580 PHOX2B seq PHOX2B 2-4 weeks
2680 RET seq
RET-related Hirschsprung disease
Multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid cancer (FMTC)
RET 14-21 days
1440 SBDS seq SBDS 2-4 weeks
1140 SERPINA1 seq SERPINA1 2-4 weeks
2746 SERPING1 seq and del/dup SERPING1 2-4 weeks
2440 SNRPN methylation analysis SNRPN 7-14 days
2766 STK11 seq and del/dup STK11 14-21 days
2606 VHL seq and del/dup VHL 14-21 days

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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