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Test Code	B0029
Test Summary	This test detects plasma globotriaosylsphingosine (lyso-Gb3).
Turn-Around-Time (TAT)*	3 days
Acceptable Sample Types	Dried Blood Spots Whole Blood (EDTA)
Acceptable Billing Types	Self (patient) Payment Institutional Billing

*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

Test Description

This test is used to monitor the levels of globotriaosylsphingosine (lyso-Gb3) for disease progression and/or treatment response in individuals with Fabry disease.

Indications For Testing

This test may be appropriate for diagnosing and monitoring disease progression and/or treatment response in individuals with Fabry disease.

Fabry disease is a lysosomal storage disorder with a wide spectrum of symptoms ranging from mild cases in females, to severe cases in classically affected hemizygous males. Symptoms may include abdominal and joint pain, vascular lesions and corneal abnormalities. Neurological symptoms include autonomic dysfunction and burning sensation or numbness in the extremities. Fabry disease affects an estimated 1 in 40,000 to 1 in 60,000 males. The prevalence is unknown in females.

Test Methods and Limitations

Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.

Detailed Sample Requirements

Dried Blood Spots

Collection Container(s):

Dried blood spot card

Collection:

Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.

NBS: Please contact PKIG to request the StepOne^® kit.
Gene Sequencing: Please contact PKIG to request the DBS collection kit.
For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.

Condition: Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.

Shipping: Follow kit instructions. Double bag and ship overnight at ambient temperature.

Whole Blood (EDTA)

Collection Container(s):

EDTA (purple top)

Collection:

Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.

Condition: Store at ambient temperature. Do not refrigerate or freeze.

Shipping: Ship overnight at ambient temperature ensuring receipt within 5-days of collection.

SPECIAL INSTRUCTIONS
Clotted or hemolyzed samples are not accepted.