RET-related Hirschsprung disease - Ambry Genetics

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Clinical Genomics

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RET-related Hirschsprung disease

Hirschsprung disease (HSCR) is multi-genic congenital disease of the large intestine characterized by absence of neuronal ganglia, colon enlargement, and constipation.

Genetic test for RET-related Hirschsprung disease by Ambry Genetics

Hirschsprung disease (HSCR) is multi-genic congenital disease of the large intestine characterized by absence of neuronal ganglia, colon enlargement, and constipation.

Our RET Gene Sequence Analysis includes next generation sequencing (NGS) of the RET gene. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS. Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing.This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions.

Genes analyzed

2680

Multiple endocrine neoplasia type 2 and familial medullary thyroid cancer

5-14 days

1 Gene

–

RET specific site analysis

7-14 days

1 Gene

Multiple endocrine neoplasia type 2 and familial medullary thyroid cancer

1 Gene

RET

RET specific site analysis

1 Gene

RET

Test Requisition Form

Comprehensive

Test Description

Our RET Gene Sequence Analysis includes next generation sequencing (NGS) of the RET gene. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS. Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing.This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions.

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.