CARNITINE PALMITOYLTRANSFERASE DEFICIENCY I(CPT1A)

Genetic testing for CPT1A mutations, which cause a rare metabolic disorder affecting fatty acid metabolism. It helps diagnose CPT1A deficiency, leading to energy metabolism issues.

Also known asCarnitine Palmitoyltransferase Deficiency I (cpt1a) Gene Sequencing Carnitine Palmitoyltransferase Deficiency I (cpt1a) Gene Sequencing

Available via

Home Collection, Lab Visit

Contains

1 parameters

Earliest reports in

28 Working Days

Test details
Preparations

No special preparations needed

Test included
CARNITINE PALMITOYLTRANSFERASE DEFICIENCY I(CPT1A) includes 1 parameter

  • Specimen

Test code

G712

Specimen vol. and vacutainer information
SpecimenVacutainerVolume
Others (fx)Others2 ML

Specimen stability information

Others (Fx)

Specimen rejection criteria

Test run frequency

Every Day TIME - 10:00

Turn around time

28 Working Days

Performing locations

Department

  • Advanced Molecular Diagnostics R&d

CPT and Loinc codes

CARNITINE PALMITOYLTRANSFERASE DEFICIENCY I(CPT1A)

22000