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aHUS/DDD Genetic Evaluation

Order Code: 1200

Also Known as

ADAMTS13, C3, C4BPA, C4BPB, CD46, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, DGKE, LMNA, THBD

Test Information

Coding regions and splice sites of the following genes are sequenced: CFH, CFI, MCP(CD46), THBD, C4BPA, C4BPB, CFB, C3, LMNA, DGKE, ADAMTS13, CFHR1, CFHR3, CFHR4 and CFHR5.

Sample Requirements

EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS

Shipping Information

Room Temperature or Refrigerated

Requested Volume

3-5 mL EDTA Whole Blood or Bone Marrow (lavender top), 3-4 Buccal Swabs, >=1 ug DNA at >=50 ng/uL, 7-15 mL Amniotic Fluid, 5-10 mg CVS, 2-T25 flasks cultured amniocytes or CVS (2x10^6 minimum)

Minimum/Pediatric Volume

Fetal: Call Laboratory; Parental/Patient: 2 mL EDTA whole blood

CPT Codes

0268U

Method

PCR amplification and Next Generation sequencing with supplementary PCR and bi-directional Sanger sequencing for quality and coverage; MLPA of selected exons of CFH, CFHR1, CFHR3, CFHR4 and CFHR5

Turnaround Time

28 days

New York State Approval

Approved

DEX Z-Code™

Yes, visit app.dexzcodes.com

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