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Atypical Hemolytic Uremic Syndrome (aHUS) Panel (DH MyExome)

eDH Procedure Code(s)

LAB1835 Atypical Hemolytic Uremic Syndrome (aHUS) Panel (DH MyExome) —LAB ONLY
LAB1847 Germline NGS Panels (DH MyExome)

Test Information

Ordering Germline NGS panels and Exome sequencing is only available by referral or prior consult with Genetics providers at DH-H.
The aHUS panel includes the analysis of 13 genes: CFH, CFI, MCP (CD46), CFB, CFHR5, C3, THBD, DGKE, PLG, ADAMTS13, MMACHC, G6PD and WT1. These genes are involved in thrombotic microangiopathies (TMA), which include complement-mediated atypical Hemolytic Uremic Syndrome (aHUS). The profile also includes screening for two single nucleotide variants that can potentially compromise responsiveness to Eculizumab (C5, c.2653C>T, p.Arg885Cys and c.2654G>A, p.Arg885His). Copy number variation is assessed directly from the exome portion of the NGS data specific to the CFH-CFHR5 genomic region.
For additional information regarding aHUS NGS panel request, please contact the CGAT lab 603-650-8257 or email CGAT_NGS_Group@hitchcock.org, cc: nidhi.d.shah@hitchcock.org (Genetics consult liaison), wahab.a.khan@hitchcock.org with questions or concerns.

Order Questions

LAB1835 Atypical Hemolytic Uremic Syndrome (aHUS) Panel (DH MyExome)
  • Opt in for ACMG secondary findings for Proband?
  • How many family members of the proband are involved? (Select one option from 0-5)
  • Provide detailed clinical phenotype on proband and/or date of clinical notes where this information can be accessed in patient's EMR
  • How will patient be provided a buccal kit for this collection?
LAB1847 Germline NGS Panels (DH MyExome)
  • Type of panel requested
  • Provide detailed clinical phenotype on proband and/or date of clinical notes where this information can be accessed in patient's EMR
  • Opt in for ACMG secondary findings for Proband?
  • How many family members of the proband are involved? (Select one option from 0-5)
  • I understand that it is my responsibility (as the ordering provider) to obtain a signed consent form when ordering germline genetic testing and that the DHMC genetic consent form can be found here: Genetic Consent Form
.

Specimen Information

Specimen Type Specimen Source Acceptable Containers Minimum Test Volume (mL)
Blood Blood, Venous Lav4-R 1.0
Blood Blood, Venous Lav6-R 1.0

Shipping and Handling

Processing Instructions: N/A

Transport Temperature: Refrigerated 4°C
Transport Instructions: N/A

Specimen Stability Unprocessed
Blood: Refrigerated @ 4°C for 7 days
Specimen Stability Post Processing
Ambient: N/A
Refrigerate: N/A
Frozen: N/A

Test Components

Component LOINC Code
NGS REPORT STATUS 62364-5

Turnaround Time (TAT)

4 Weeks

CPT Code(s)

81443

Performing Lab Section

Molecular Pathology

Performing Lab(s)

Dartmouth Hitchcock Medical Center Laboratory (MHMH)