Genetic Study CCR5 delta 32

Clinical information

Diagnostic Utility:

Homozygous carriers of the CCR5-Δ32 mutation are resistant to HIV infection. Genetic study of the delta 32 deletion of the CCR5 gene allows us to identify, at the time of registration, cord units that could be effective for patients with HIV infection requiring hematopoietic progenitor transplantation.

Method:

PCR (LRD2102).

It consists of amplifying the CCR5 gene and identifying the presence of the deletion by evaluating the molecular weight of the amplicon or by fragment analysis.

PCR-NGS (LRD2102CR)

This technique consists of several phases: amplification of the HLA genes of interest by PCR, library preparation, sequencing, and results analysis.

Reference Values

Possible results are: Homozygous for CCR5 wild-type, heterozygous for the delta 32 deletion, and homozygous for the delta 32 deletion.

Diagnostic Algorithm:

Not applicable.

Turnaround Time:

15 working days.

Specimen information

Sample: Peripheral whole blood or umbilical cord blood
Tube: EDTA K3 Tube 10ml or cord blood aliquot
Minimum volume: 100µl.

Stability:

• In refrigeration: 2 weeks.
• At -20ºC: after 2 weeks.

Transport instructions: Preferably at room temperature

Reason for rejection: Clotted sample

Administrative information

BST Code: LRD2102 / LRD2102CR
Test Description: CCR5Δ32 Genetic Study
Synonyms: Not applicable.
Section: Histocompatibility and Immunogenetics
BST Rates: Check the updated rates here.
Profiles: Not applicable.

References

Manual dels "Standards for Histocompatibility Testing" de l'EFI (darrera versió).