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Laboratory

Exult Diagnostics, Dr. Lal PathLabs

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VERY LONG CHAIN FATTY ACIDS

 27500

EX2043      VERY LONG CHAIN FATTY ACIDS
Specimen: 2 mL (1 mL min.) serum in 1 Red Top (No Additive) tube. Do not use SST gel barrier tubes. Ship refrigerated or frozen.
Stability:
Room Refrigerated Frozen
NA 7 days 28 days
Method: Gas Chromatography / Tandem Mass Spectrometry
Comment:
Report: Contact us to know the TAT.
Usage: Very Long Chain Fatty Acids (VLCFAs), Phytanic acid, and Pristanic acid are metabolized by Peroxisomes. Defects in these pathways usually result in the accumulation in tissues and body fluids of one or more metabolites derived from the blocked metabolic steps. This assay is used for differential diagnosis of peroxisomal disorders like Zellweger spectrum disorders of peroxisomal biogenesis, X-linked Adrenoleukodystrophy (X-ALD), and its adult form X-linked Adrenomyeloneuropathy (X-AMN), Refsum disease (Phytanoyl-CoA hydroxylase Deficiency) & 2-methyl acyl-CoA racemase deficiency.
Doctor Specialty: Physician
Disease: Genetic diseases
Components: *Phytanic Acid *Pristanic Acid *Docosanoic, C22:0 *Tetracosanoic, C24:0 *Hexacosanoic, C26:0 *Ratio C24/C22 *Ratio C26/C22 *Ratio Pristanic/Phytanic
Courier Charges: Included with MRP.
Home Collection: Available (*T&C Apply)
Department: GENETICS
Pre Test Information: Avoid alcohol 24 hours prior to sample collection. Overnight fasting is mandatory. For pediatric patients, fasting is not required but sample collection should occur prior to the next meal or scheduled feeding. A duly filled Test Send Out Consent Form is mandatory.