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aHUS/DDD Genetic Evaluation

Order Code: 1200

Also Known as

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

Test Information

Sequence analysis of coding regions/splice sites of IS? Genes detects germile variants associated with atypical homlytic urmeic syndome (aHUS); in addition, variants in a umber of these genes have been associated with an unrelated disorder, C3 glomerulopathy (C3G), C3 glomeruloneprhitis (C3GN) and dense deposit disease (DDD).

Sample Requirements

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

Shipping Information

Room Temperature

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

81406, 81479

Method

PCR amplification and Next Generation Sequencing (MiSeq) with supplementary Sanger for quality and coverage; MLPA of RCA gene cluster

Turnaround Time

28 days

New York State Approval

Approved

DEX Z-Code™

Yes, visit app.dexzcodes.com

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