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  • Test code: 75000
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Progressive Renal Disease Panel

Test description

The Invitae Progressive Renal Disease Panel analyzes genes that are associated with progressive renal disorders such as Alport syndrome, focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome. Nephrotic syndrome and FSGS are genetically heterogeneous disorders representing a spectrum of hereditary renal conditions. The genetic heterogeneity associated with these renal conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives.

This assay does not currently include the PKD1 gene. Pathogenic variants in the PKD1 gene account for the majority (~78%) of autosomal dominant polycystic kidney disease, type 1 (PKD1). Additional testing for PKD1 should be considered, if not yet performed and clinically appropriate.

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Primary panel (18 genes)

ACTN4 ANLN APOL1 CD2AP COL4A3 COL4A4 COL4A5 CRB2 HNF1A INF2 LMX1B MYO1E NPHS1 NPHS2 PAX2 PKD2 PKHD1 TRPC6

  • Alport syndrome
  • Focal segmental glomerulosclerosis (FSGS)
  • Nephrotic syndrome type 1
  • Nephrotic syndrome type 2
  • Autosomal dominant polycystic kidney disease (ADPKD)
  • Autosomal recessive polycystic kidney disease (ARPKD)

To view the complete clinical description of this panel, click here.

Progressive renal disorders can occur in several inheritance patterns including autosomal dominant, autosomal recessive, and X-linked.

Assay and technical information

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
ACTN4 NM_004924.5
ANLN NM_018685.4
APOL1 NM_003661.3
CD2AP NM_012120.2
COL4A3 NM_000091.4
COL4A4 NM_000092.4
COL4A5 NM_000495.4
CRB2 NM_173689.6
HNF1A NM_000545.5
INF2 NM_022489.3
LMX1B NM_002316.3
MYO1E NM_004998.3
NPHS1 NM_004646.3
NPHS2 NM_014625.3
PAX2 NM_003988.3
PKD2 NM_000297.3
PKHD1 NM_138694.3
TRPC6 NM_004621.5