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HelpTEST ID CKDGP Cystic Kidney Disease Gene Panel, Varies
Reporting Name
Cystic Kidney Disease Gene PanelSpecimen Type
VariesOrdering 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.
Specimen Minimum Volume
Blood: 1 mL; Amniotic fluid/CVS: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Special Instructions
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)
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
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 |
Report Available
28 to 42 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 months; Cultured amniocytes, cultured chorionic villi: 1 monthPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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)
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.