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, DGKE, ADAMTS13, CFHR1, CFHR3, CFHR4 and CFHR5. USA test status: This is a laboratory developed test (LDT).
Also Known As
- ADAMTS13
- C3
- C4BPA
- C4BPB
- CD46
- CFB
- CFH
- CFHR1
- CFHR3
- CFHR4
- CFHR5
- CFI
- DGKE
- THBD
Disease State
Atypical Hemolytic Uremic Syndrome
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
- CPT Codes are for reference only. Questions? Please contact us at 800-245-3117 x 6250 or email labinfo@versiti.org.
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