Comprehensive Inherited Kidney Disease Panel
Label Mnemonic: KIDIIHG
Epic Lab Code: LAB8632
Downtime Form: A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Collection Medium:
Pink top tube 6 mL (K2-EDTA)
Minimum:
Preferred Minimum: 6 mL EDTA whole blood
Absolute Minimum: 3 mL EDTA whole blood
Turn Around Time:
Approximately 12 weeks after receipt of sample and test requisition at the reference laboratory.
Comments:
Please print, complete, and submit the Clinical Test Requisition Form from the Iowa Institute of Human Genetics Laboratories with the sample(s) and the A-1a Miscellaneous Request or Epic Req.

This test is appropriate to validate a likely genetic renal diagnosis, when there are several genetic renal possibilities or when there is uncertainty as to the genetic renal diagnosis. It should also be considered as part of the transplant evaluation of recipients especially when living-related donation is planned.
Test Limitations:
KidneySeq™ is a targeted capture platform which does not capture the entire exome. Regions not captured by the panel will not be analyzed.
◦Please note, it is important to understand the absence of a reportable variant in a given gene does not mean there are not pathogenic variants in that gene.

The variant causing the patient's symptoms may not be detected because: some types of variants are very difficult to identify; and it may not be included in the sequenced/studied region. Typically, single nucleotide variations (SNV), and small insertions or deletions (indels) can be detected. Examples of genomic variations that are not reliably detected include:
◦Trinucleotide repeats
◦Genomic rearrangements
◦Large deletions, duplications, and insertions
◦Copy Number Variants (CNV)
◦Regulatory variants
◦Non-coding RNA
◦Gain-of-splice site variants
◦Multi-gene contributions
◦Un-annotated or under-annotated genes
◦Epigenetic/chromatin variations
◦Mutations involved in tri-allelic inheritance
◦Mitochondrial genome mutations
◦Mutations in genes with pseudogenes

The test cannot predict disease onset or severity.

If a variant is identified, it may not be recognized as disease- causing because the understanding of the genome is not complete and it is not possible to predict with 100% accuracy the effect of all variants.

Interpretation of results is based on the current understanding of the human genome and human health and disease. The test may detect variants of uncertain clinical significance. Efforts will be made to limit these types of results.

The results may be unclear and testing of other family members may be necessary to interpret the patient's test results, however, this testing would require the patient's approval and the consent of their family members.

The ability to identify the variant responsible for the condition is highly dependent on the clinical information provided to the laboratory by the ordering physician.
Methodology:
Targeted genomic enrichment and massively parallel sequencing
CPT Code:
Kidney Disease Molecular Level 5 - 81404
Kidney Disease Molecular Level 6 - 81405
Kidney Disease Molecular Level 7 - 81406
Kidney Disease Molecular Level 8 - 81407
Kidney Disease Molecular Level 9 - 81408
Kidney Disease Comprehensive - 81479