1200
aHUS/DDD Genetic Evaluation
Order Code: 1200
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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.
Also Known As
- ADAMTS13
- C3
- C4BPA
- C4BPB
- CD46
- CFB
- CFH
- CFHR1
- CFHR3
- CFHR4
- CFHR5
- CFI
- DGKE
- LMNA
- THBD
Disease State
Atypical Hemolytic Uremic Syndrome
Test Type
Genetic Test
Sample Notes
EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS
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
Shipping Information
Room Temperature or Refrigerated
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
Yes
DEX Z-Code™
Yes, visit app.dexzcodes.com