NephrolithiasisNext

NephrolithiasisNext is a comprehensive panel for patients with symptoms of nephrolithiasis and nephrocalcinosis. Given the overlap in genetic causes and variability in clinical symptoms and presentation, NephrolithiasisNext represents the most effective way of identifying at-risk individuals or confirming a diagnosis.

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Test Code 9580
Turnaround Time (TAT) 2-4 weeks
Number of Genes 30

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We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

Test Description

NephrolithiasisNext includes 30 genes associated with both syndromic and non-syndromic nephrolithiasis and nephrocalcinosis, such as primary hyperoxaluria (types 1, 2, and 3), adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia and hypercalciuria and nephrocalcinosis (FHHNC), distal renal tubular acidosis, and others.

Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology and quantified. Sequence enrichment of the exome and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and Next-Generation sequencing, and the 30 genes undergo comprehensive analysis. Reportable small insertions and deletions, potentially homozygous variants, and single nucleotide variant calls not satisfying established confidence thresholds based on coverage and alternative read ratios are verified by Sanger sequencing. Gross deletion/duplication analysis is assessed for all genes using a custom pipeline based on coverage and/or breakpoint analysis from NGS data and is followed by a confirmatory orthogonal method, as needed.

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