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HelpTest ID: CKDGP Cystic Kidney Disease Gene Panel, Varies
Ordering Guidance
Targeted testing for familial variants (also called site-specific or known mutations/variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information, see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Additional Testing Requirements
All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen as this must be a different order number than the prenatal specimen.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Prenatal Specimens:
Due to its complexity, consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor.
Specimen Type: Amniotic fluid
Container/Tube: Amniotic fluid container
Specimen Volume: 20 mL
Specimen Stability Information: Refrigerated (preferred)/Ambient
Additional information:
1. If amniotic fluid or nonconfluent cultures are received, CULAF / Culture for Genetic Testing, Amniotic Fluid will be added at an additional charge.
2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Specimen Type: Chorionic villi
Container/Tube: 15-mL tube containing 15 mL of transport media
Specimen Volume: 20 mg
Specimen Stability Information: Refrigerated
Additional Information:
1. If nonconfluent cultures are received, CULFB / Fibroblast Culture for Biochemical or Molecular Testing will be added at an additional charge.
2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Acceptable:
Specimen Type: Confluent cultured cells
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured cells from another laboratory.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information: All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Hereditary Renal Genetic Testing Patient Information (T918)
3. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history of cystic kidney disease
Establishing a diagnosis of hereditary cystic kidney disease
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in 45 genes associated with cystic kidney disease: ALG8, ALG9, ANKS6, BICC1, CEP164, CEP290, CEP83, COL4A1, CRB2, DCDC2, DNAJB11, DZIP1L, GANAB, GLIS2, HNF1B, INVS, IQCB1, JAG1, LRP5, MAPKBP1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD1, PKD2, PKHD1, PRKCSH, RPGRIP1L, SDCCAG8, SEC61A1, SEC63, TMEM67, TRAF3IP1, TSC1, TSC2, TTC21B, UMOD, VHL, WDR19, WDR35, XPNPEP3. See Targeted Genes and Methodology Details for Cystic Kidney Disease Gene Panel in Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for cystic kidney disease.
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
| CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
| MATCC | Maternal Cell Contamination, B | Yes | No |
Testing Algorithm
For prenatal specimens only:
If an amniotic fluid specimen or nonconfluent cultures are received, amniotic fluid culture for a genetic test will be performed at an additional charge.
If a chorionic villi specimen is received, fibroblast culture for a genetic test will be performed at an additional charge.
For any prenatal specimen received, maternal cell contamination testing will be performed at an additional charge.
Method Name
Sequence Capture and Amplicon-based Next-Generation Sequencing (NGS)
Reporting Name
Cystic Kidney Disease Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
Blood: 1 mL; Amniotic fluid/CVS: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Hereditary forms of cystic kidney disease have several underlying genetic etiologies and may present in childhood or adulthood, with or without extrarenal features. The two most common categories of hereditary cystic kidney disease are the ciliopathic disorders and the phakomatoses.(1)
Ciliopathic disorders causing cystic kidney disease include polycystic kidney disease (PKD), nephronophthisis (NPHP), and medullary cystic kidney disease (MCKD). The PKD1 and PKD2 genes cause the majority of autosomal dominant PKD (ADPKD), while the GANAB and DNAJB11 genes are implicated in a minority of cases.(2,3) The PKHD1 gene is the major gene associated with autosomal recessive PKD (ARPKD), while DZIP1L has been more recently identified as a secondary cause.(4) ARPKD is often diagnosed in utero due to oligohydramnios. NPHP is an autosomal recessive condition characterized by cystic kidney disease, inflammation, fibrosis, and progression to kidney failure. MCKD is an autosomal dominant condition characterized by cysts in the medullary region of the kidney, kidney tubule fibrosis, hyperuricemia, and slowly worsening kidney function. Genes included on this panel for MCKD include HNF1B, UMOD, and SEC61A1 (note the MUC1 gene is not included on this panel).
Phakomatoses, also known as neurocutaneous syndromes, are a broad group of hereditary disorders characterized by involvement of structures that arise from the embryonic ectoderm (central nervous system, skin, and eyes). Cystic renal lesions are common in these disorders. Phakomatoses genes included on this panel are the TSC1 and TSC2 tumor suppressor genes associated with tuberous sclerosis complex (TSC) and the VHL gene associated with von Hippel-Lindau syndrome.
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Dillman JR, Trout AT, Smith EA, Towbin AJ: Hereditary renal cystic disorders: Imaging of the kidneys and beyond. Radiographics. May-Jun 2017;37(3):924-946. doi: 10.1148/rg.2017160148
2. Porath B, Gainullin VG, Cornec-Le Gall E, et al: Mutations in GANAB, encoding the glucosidase IIa subunit, cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet. 2016 Jun 2;98(6):1193-1207. doi: 10.1016/j.ajhg.2016.05.004
3. Cornec-Le Gall E, Olson RJ, Besse W, et al: Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease. Am J Hum Genet. 2018 May 3;102(5):832-844. doi: 10.1016/j.ajhg.2018.03.013
4. Lu H, Rondon Galeano M, Ott E, et al: Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871
5. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424. doi: 10.1038/gim.2015.30
Day(s) Performed
Varies
Report Available
28 to 42 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81404
81405
81406 x 6
81407 x 4
81408 x 3
81479
81265-Maternal cell contamination (if appropriate)
88233-Tissue culture, skin, solid tissue biopsy (if appropriate)
88235-Amniotic Fluid culture (if appropriate)
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| CKDGP | Cystic Kidney Disease Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 618073 | Test Description | 62364-5 |
| 618074 | Specimen | 31208-2 |
| 618075 | Source | 31208-2 |
| 618076 | Result Summary | 50397-9 |
| 618077 | Result | 82939-0 |
| 618078 | Interpretation | 69047-9 |
| 618079 | Additional Results | 82939-0 |
| 618080 | Resources | 99622-3 |
| 618081 | Additional Information | 48767-8 |
| 618082 | Method | 85069-3 |
| 618083 | Genes Analyzed | 48018-6 |
| 618084 | Disclaimer | 62364-5 |
| 618085 | Released By | 18771-6 |
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