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Highlighted Tests
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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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Exome & Microarray
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Exome & Microarray
Testing Options
Name TAT Genes ExomeNext-Proband™ 6-8 weeks ~ 20,000 ExomeNext-Proband plus mtDNA 6-8 weeks ~ 20,000 ExomeNext-Duo™ 6-8 weeks ~ 20,000 ExomeNext-Duo plus mtDNA 6-8 weeks ~ 20,000 ExomeNext-Trio™ 6-8 weeks ~ 20,000 ExomeNext-Trio plus mtDNA 6-8 weeks ~ 20,000 ExomeNext-Rapid® 14-18 days ~ 20,000 ExomeNext-Select™ 2-4 weeks up to 500 SNP Array 14-21 days Whole Genome
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Endocrinology
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Endocrinology
Testing Options
Name TAT Genes Hereditary leiomyomatosis and renal cell carcinoma 14-21 days 1 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 von Hippel-Lindau disease 14-21 days 1
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Gastroenterology
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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 Peutz-Jeghers syndrome 14-21 days 1
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Multiple Congenital Anomalies
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Multiple Congenital Anomalies
Testing Options
Name TAT Genes SNP Array 14-21 days Whole Genome NoonanNext™ 14-21 days 18
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Hematology
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Hematology
Testing Options
Name TAT Genes Shwachman-Diamond syndrome 2-4 weeks 1
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Pulmonology
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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
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Vascular
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Vascular
Testing Options
Name TAT Genes HHTNext® 14-21 days 6 TAADNext® 14-21 days 35
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