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Succinylacetone, Quantitative, Blood Spot

Order Code
99150024
CPT
84510, 82542x2
Test Details
TAT

2 working days

Methodology

Liquid chromatography/tandem mass spectrometry (LC/MS-MS)

Performing Location

Accredited NRL Laboratory

Testing Frequency

Monday to Friday

Test Overview

Detects elevated levels of suinylacetone in dried blood spots. It is a critical marker for tyrosinemia type I, a metabolic disorder caused by deficiency of fumarylacetoacetate hydrolase. Early detection through newborn screening enables prompt treatment to prevent liver failure, renal dysfunction, and neurological crises

Specimen Type

Dried Blood Spot

Volume

At least 2 DBS circles (1 cm diameter each) should be filled with free-flowing blood

Specimen Container

Approved filter paper collection cards provided by NRL

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

The blood should be collected on 903 filter Paper (preferred), or 226 filter paper (acceptable) and allowed to dry at room temperature for four hours. Keep the paper card horizontal (on flat surface) during drying.

Specimen Stability
Temperature Period
Refrigerated 7 days
Room Temperature 2 days
Order Code
99150024
CPT
84510, 82542x2
Test Details
TAT

2 working days

Methodology

Liquid chromatography/tandem mass spectrometry (LC/MS-MS)

Performing Location

Accredited NRL Laboratory

Testing Frequency

Monday to Friday

Test Overview

Detects elevated levels of suinylacetone in dried blood spots. It is a critical marker for tyrosinemia type I, a metabolic disorder caused by deficiency of fumarylacetoacetate hydrolase. Early detection through newborn screening enables prompt treatment to prevent liver failure, renal dysfunction, and neurological crises

Specimen Type

Dried Blood Spot

Volume

At least 2 DBS circles (1 cm diameter each) should be filled with free-flowing blood

Specimen Container

Approved filter paper collection cards provided by NRL

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

The blood should be collected on 903 filter Paper (preferred), or 226 filter paper (acceptable) and allowed to dry at room temperature for four hours. Keep the paper card horizontal (on flat surface) during drying.

Specimen Stability
Temperature Period
Refrigerated 7 days
Room Temperature 2 days