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Test ID SCDGP Severe Combined Immunodeficiency Panel (63 genes), Next-Generation Sequencing, Varies

Ordering Guidance

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Mutation, Targeted Testing, Varies.

Necessary Information

1. Primary Immunodeficiencies Patient Information (T791) is strongly recommended, but not required, to be filled out and sent with the specimen. This information aids in providing a more thorough interpretation of test results. Ordering providers are strongly encouraged to complete the form and send it with the specimen.

2. Include physician name and phone number with specimen.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor or a recent (ie, <6 weeks from time of sample collection) heterologous blood transfusion 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: Lavender top (EDTA)

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 14 days


Specimen Type: Blood spot

Supplies: Card-Blood Spot Collection Filter Paper (T493)


Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: Whatman FTA Classic paper, PerkinElmer 226 (formerly Ahlstrom 226) filter paper, or blood spot collection card

Specimen Volume: 2 to 5 blood spots

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year of age is fingerstick. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information:

1. Due to lower concentration of DNA yielded from blood spot, it is possible that additional specimen may be required to complete testing.

2. For collection instructions, see Blood Spot Collection Instructions

3. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)

4. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)


Specimen Type: Peripheral blood mononuclear cells (PBMC)

Container/Tube: Cell pellet

Collection Instructions: Send as a suspension in freezing medium or cell pellet frozen on dry ice.

Specimen Stability Information: Frozen


Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 or 2 full T-25 flasks

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

Additional Information: Indicate the tests to be performed on the fibroblast culture cells. 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: 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. Tubes of culture media can be supplied upon request (Eagle's minimum essential medium 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: Extracted DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated


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. Primary Immunodeficiencies Patient Information (T791) is recommended.

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of:

-Severe combined immunodeficiency (SCID)

-Combined immunodeficiency (CID)

-T-cell lymphopenia/deficiency

-Bare lymphocyte syndrome (BLS)

-Epstein-Barr virus-associated primary immunodeficiency disorder (EBV-associated PIDD)


Establishing a diagnosis and, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved


Identifying pathogenic variants within genes known to be associated SCID, CID, T-cell lymphopenia/deficiency, BLS, or EBV-associated PIDD allowing for predictive testing of at-risk family members

Genetics Test Information

This test includes next-generation sequencing and supplemental Sanger sequencing to test for variants in the ADA(ADA1), ADA2 (CECR1), AK2, ATM, CD247(CD3Z), CD27, CD3D, CD3E, CD3G, CD8A, CHD7, CIITA, CORO1A, CTPS1, DCLRE1C(ARTEMIS), FOXN1, GATA2, IKBKB, IKBKG(NEMO), IL21, IL21R, IL2RG, IL7R, ITK, JAK3, LCK, LIG4, MAGT1, MALT1, MTHFD1, NFKBIA(IKBA), NHEJ1, ORAI1, PNP, PRKDC, PTPRC(CD45), RAC2, RAG1, RAG2, RBM8A, RFX5, RFXANK, RFXAP, RHOH, RMRP, SEMA3E, SH2D1A, SLC46A1, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TAZ, TBX1, TNFRSF4(OX40), TRAC, TTC7A,WAS, WIPF1, XIAP(BIRC4), ZAP70 genes.


This test uses Sanger sequencing to test for variants in certain exons of the following genes:

IKBKG (NEMO) Exons 3-10; The recurrent IKBKG ~11.7 kilobase deletion associated with incontinentia pigmenti is not detected.

CORO1A Exon 11

STAT5B Exons 6-8

Identification of a disease-causing variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

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 testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

Reporting Name

SCID PID Gene Panel

Specimen Type


Specimen Minimum Volume

Whole blood: 1 mL; Blood spots: 2 spots; For the other specimen types: 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


Report Available

14 to 56 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. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
SCDGP SCID PID Gene Panel In Process


Result ID Test Result Name Result LOINC Value
BA3935 Gene(s) Evaluated 48018-6
BA3936 Result Summary 50397-9
BA3937 Result Details 82939-0
BA3938 Interpretation 69047-9
BA3939 Additional Information 48767-8
BA3940 Method 85069-3
BA3941 Disclaimer 62364-5
BA3942 Reviewed by 18771-6

NY State Approved