SMARCA4 Sequencing and Deletion/Duplication

Test Code

38809

CPT Codes
81479

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube or ACD (yellow-top) tube

Patient Preparation
⁠⁠⁠⁠⁠⁠⁠Saliva: Do not eat, drink, smoke or chew gum for 30 minutes before collection.

Buccal swab: Please refer to user instructions provided with kit. Ensure the sponge tip does not come into contact with any surface prior to collection. Do not eat, drink, smoke, or chew gum for 30 minutes before collection. Do not touch swab tips or allow contact with any other object.

Minimum Volume

2 mL whole blood • 2 mL saliva • 1 buccal swab • 10 mg skin fibroblasts • 10 mL amniotic fluid • 10 mg chorionic villi

Other Acceptable Specimens

2 mL saliva to "fill to" line collected in OGD-500, OrageneDx collection kit • 1 buccal swab submitted in OCD-100A buccal kit (ORAcollect-DX collection kit) • 10 mg skin fibroblasts collected in sterile plastic container • 2 flasks (2 flasks 75% confluent minimum) skin fibroblasts, cultured amniocytes or cultured chorionic villi collected in each of two separate sterile T-25 culture flasks • 10 mL amniotic fluid collected in a sterile, plastic, leak-proof container • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media

Instructions

Do not hold specimen. Forward to laboratory when specimen arrives.

Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.

Saliva: 2 mL saliva collected in the Oragene-Dx collection kit up to the "fill to" line (OGD-500/OGD-600, OGD-510/OGD-610). Do NOT remove the plastic film from the funnel lid.

For fibroblasts and skin fibroblasts, call 1-866-GENEINFO (1-866-436-3463) prior to collecting and ordering.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission; 2) Documentation of parental carrier status must be provided; 3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Amniocyte or Chorionic Villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.

Dissected Chorionic Villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Transport Temperature

Room temperature

Specimen Stability

Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable

Saliva or buccal swab
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days

Fibroblasts and skin fibroblasts
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable

Amniotic fluid or chorionic villus
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Do not reject. Forward to performing laboratory for evaluation of sample.

Methodology
DNA Bait Capture • Long Range Polymerase Chain Reaction • Next Generation Sequencing • Microarray

Setup Schedule

Set up: Tues, Thurs, Sat; Report available: 15-22 days from completed pre-authorization

Reference Range

See Laboratory Report

Clinical Significance

This test includes sequencing and deletion/duplication analysis of the SMARCA4 gene. A pathogenic variant in the SMARCA4 gene is consistent with a diagnosis of rhabdoid tumor predisposition syndrome 2 and individuals have an elevated risk of rhabdoid tumors including small cell carcinoma of the ovary, hypercalcemic type, or SCCOHT.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.