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Complement and Coagulation Mediated TMA (aHUS) Genetic Analysis

Order Code
630320
CPT
81404, 81479
Test Details
Synonyms

thrombotic microangiopathy

TAT

32 days

Methodology

Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)

Remarks

Test Includes: C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, PLG, THBD, MMACHC, C5 (c.2653C>T(p.Arg885Cys) and c.2654G>A(p.Arg885His))

Performing Location

Accredited Laboratory Partner

Testing Frequency

Contact Technical Support

Test Overview

Genetic test for atypical hemolytic uremic syndrome. Screens for complement/coagulation gene mutations.

Specimen Type

Whole Blood, Oral swab or extracted DNA (from Blood or oral swab only)

Volume

Whole blood: 4 mL, oral swab: 3 swabs, or extracted DNA:

Specimen Container

Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only, extracted DNA

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Room temperature Whole blood: 14 days Swab: 60 days
Refrigerated Whole blood: 14 days Swab: 60 days
Order Code
630320
CPT
81404, 81479
Test Details
Synonyms

thrombotic microangiopathy

TAT

32 days

Methodology

Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)

Remarks

Test Includes: C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, PLG, THBD, MMACHC, C5 (c.2653C>T(p.Arg885Cys) and c.2654G>A(p.Arg885His))

Performing Location

Accredited Laboratory Partner

Testing Frequency

Contact Technical Support

Test Overview

Genetic test for atypical hemolytic uremic syndrome. Screens for complement/coagulation gene mutations.

Specimen Type

Whole Blood, Oral swab or extracted DNA (from Blood or oral swab only)

Volume

Whole blood: 4 mL, oral swab: 3 swabs, or extracted DNA:

Specimen Container

Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only, extracted DNA

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Room temperature Whole blood: 14 days Swab: 60 days
Refrigerated Whole blood: 14 days Swab: 60 days