![]() ![]() Gaucher disease type I is the most common form, representing more than 90% of cases. All types of Gaucher disease include hepatosplenomegaly and hematological abnormalities. It has historically been categorized into 3 types (GD1, GD2 and GD3) based on the presence and progression of neuropathic features. Gaucher disease is caused by variants in the GBA gene and presents with a markedly variable phenotype, ranging from a perinatal lethal disorder to mildly symptomatic. Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme, beta-glucosidase, which facilitates the lysosomal degradation of glucosylceramide (glucocerebroside) and glucopsychosine (glucosylsphingosine: lyso-GL1). For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) ![]() For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)ģ. For collection instructions, see Blood Spot Collection InstructionsĢ. ![]() Do not expose specimen to heat or direct sunlight.ġ. At least 1 spot should be complete, (ie, unpunched)ģ. Let blood dry completely on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.Ģ. Preferred: Blood Spot Collection (Filter Paper)Īcceptable: Whatman Protein Saver 903 filter paper, PerkinElmer 226 filter paper, Munktell filter paper, Postmortem Screening card, or collected with sodium heparin, lithium heparin, ACD-B or EDTA containing devicesġ. Card-Postmortem Screening (Filter Paper) (T525) Card-Blood Spot Collection Card (Filter Paper) (T493) ![]()
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