The Invitae Nephrolithiasis Panel analyzes genes that are associated with nephrolithiasis/kidney stone disease.
ADCY10 AGXT ALPL APRT ATP6V0A4 ATP6V1B1 CA2 CASR CLCN5 CLDN16 CLDN19 CYP24A1 FAM20A GPHN GRHPR HOGA1 HPRT1 KCNJ1 MOCOS MOCS1 OCRL PREPL SLC12A1 SLC22A12 SLC26A1 SLC2A9 SLC34A1 SLC34A3 SLC3A1 SLC4A1 SLC7A9 SLC9A3R1 UMOD VDR XDH
ADCY10 AGXT ALPL APRT ATP6V0A4 ATP6V1B1 CA2 CASR CLCN5 CLDN16 CLDN19 CYP24A1 FAM20A GPHN GRHPR HOGA1 HPRT1 KCNJ1 MOCOS MOCS1 OCRL PREPL SLC12A1 SLC22A12 SLC26A1 SLC2A9 SLC34A1 SLC34A3 SLC3A1 SLC4A1 SLC7A9 SLC9A3R1 UMOD VDR XDH
To view the complete clinical description of this panel, click here.
Genes on the Nephrolithiasis panel can be inherited in an autosomal dominant, autosomal recessive or X-linked pattern. Several genes on the Nephrolithiasis panel can be inherited in either autosomal dominant or autosomal recessive pattern. Recessive genes are more likely to be the cause for affected infants and children and autosomal dominant inheritance for adult onset forms (PMID: 25296721, 26787776).
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
Gene | Transcript reference | Sequencing analysis | Deletion/Duplication analysis |
---|---|---|---|
ADCY10 | NM_018417.5 | ||
AGXT | NM_000030.2 | ||
ALPL | NM_000478.5 | ||
APRT | NM_000485.2 | ||
ATP6V0A4 | NM_020632.2 | ||
ATP6V1B1 | NM_001692.3 | ||
CA2 | NM_000067.2 | ||
CASR | NM_000388.3 | ||
CLCN5 | NM_000084.4 | ||
CLDN16 | NM_006580.3 | ||
CLDN19 | NM_148960.2 | ||
CYP24A1 | NM_000782.4 | ||
FAM20A | NM_017565.3 | ||
GPHN | NM_020806.4 | ||
GRHPR | NM_012203.1 | ||
HOGA1 | NM_138413.3 | ||
HPRT1 | NM_000194.2 | ||
KCNJ1 | NM_000220.4 | ||
MOCOS | NM_017947.2 | ||
MOCS1 | NM_001075098.3 | ||
OCRL | NM_000276.3 | ||
PREPL | NM_006036.4 | ||
SLC12A1 | NM_000338.2 | ||
SLC22A12 | NM_144585.3 | ||
SLC26A1 | NM_213613.3 | ||
SLC2A9 | NM_020041.2 | ||
SLC34A1 | NM_003052.4 | ||
SLC34A3 | NM_080877.2 | ||
SLC3A1 | NM_000341.3 | ||
SLC4A1 | NM_000342.3 | ||
SLC7A9 | NM_014270.4 | ||
SLC9A3R1 | NM_004252.4 | ||
UMOD | NM_003361.3 | ||
VDR | NM_001017535.1 | ||
XDH | NM_000379.3 |