HLA genotype associated with Narcolepsy

Clinical information

Diagnostic Utility:

Studying the HLA genotype allows us to identify HLA alleles associated with diseases such as narcolepsy (HLA-DRB1*15:01 DQB1*06:02).

Method:

The PCR-NGS technique enables high-resolution HLA typing of class I and II HLA genes. This technique consists of several phases: amplification of the HLA genes of interest using PCR, library preparation, sequencing, and results analysis. For the HLA genotype associated with narcolepsy, we focus on typing the HLA-DRB1 and -DQB1 genes.

The PCR-SBT technique enables high-resolution HLA typing of an isolated HLA gene. This technique consists of two phases: amplification of the exons of the HLA genes of interest using PCR and sequencing reaction of the amplified products. Finally, the sequences are analyzed by electrophoresis. For the HLA genotype associated with narcolepsy, exons 2 and 3 of the HLA-DRB1 and -DQB1 genes are sequenced.

Reference Values

The result is considered positive if the HLA typing is HLA-DRB1*15:01 DQB1*06:02.

Diagnostic Algorithm:

Not applicable.

Turnaround Time:

15 working days.

Specimen information

Sample: Whole blood
Tube: EDTA K3 4 ml tube
Minimum volume: 500µl.

Stability:

• In refrigeration: 2 weeks.
• At -20ºC: from 2 weeks onwards.

Transport instructions: Preferably at room temperature

Reason for rejection: Clotted sample.

Administrative information

BST Code: LRD2051
Test Description: HLA Genotype associated with Narcolepsy
Synonyms: Not applicable.
Section: Histocompatibility and Immunogenetics
BST Fee: Check the updated fees here.
Profiles: Not applicable.

References

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

Quality

BST holds ISO 9001, ISO 14001, and OSHAS 18001 quality certifications, as well as the European Excellence 500+ seal. BST is accredited by CAT, JACIE-FACT, FACT-NETCORD, and EFI, and complies with Good Manufacturing Practice (GMP) and Good Distribution Practice (GDP) guidelines.