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Test ID SCIDP Severe Combined Immunodeficiency (SCID) Gene Panel, Varies


Ordering Guidance


Targeted testing for familial variants (also called site-specific or known 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.



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. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

 

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) 4 days/Refrigerated

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.

Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.


Forms

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 in:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Combined Immunodeficiency, Severe Combined Immunodeficiency, and B-Cell/Antibody Deficiency Patient Information

Useful For

Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes

 

Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or determination of targeted management (anticipatory guidance, management changes, specific therapies)

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 50 genes associated with severe combined immunodeficiency (SCID): ADA, AK2, ATM, BCL11B, CARD11, CD247, CD3D, CD3E, CD3G, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DOCK2, DOCK8, EXTL3, FOXN1, IKZF1, IL2RA, IL2RG, IL7R, JAK3, LAT, LCP2, LIG4, MTHFD1, NBN, NHEJ1, ORAI1, PAX1, PNP, POLE2, PRKDC, PTPRC, RAC2, RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SEMA3E, SMARCAL1, STIM1, TBX1, TTC7A, WAS, WIPF1, and ZAP70. See Targeted Genes and Methodology Details for Severe Combined Immunodeficiency (SCID) Gene Panel for details regarding the targeted gene regions evaluated by this test.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for SCID.

Disease States

  • Nijmegen breakage syndrome

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Method Name

Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)/Quantitative Real-Time Polymerase Chain Reaction (qPCR) and Sanger Sequencing as needed

Reporting Name

SCID Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Skin biopsy or cultured fibroblasts: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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

81443

88233- Tissue culture, skin, solid tissue biopsy (if appropriate)

88240- Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SCIDP SCID Gene Panel In Process

 

Result ID Test Result Name Result LOINC Value
620135 Test Description 62364-5
620136 Specimen 31208-2
620137 Source 31208-2
620138 Result Summary 50397-9
620139 Result 82939-0
620140 Interpretation 69047-9
620141 Additional Results 48767-8
620142 Resources 99622-3
620143 Additional Information 48767-8
620144 Method 85069-3
620145 Genes Analyzed 82939-0
620146 Disclaimer 62364-5
620147 Released By 18771-6

NY State Approved

Yes