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| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Glucosylsphingosine (Lyso Gb1)
Test Code14167
Preferred Specimen
Reject Criteria:
Hemolysis; Serum separator tube (SST)
PREFERRED
0.5 mL plasma (L, lavender-top tube, EDTA) refrigerated
(cold packs)
Minimum: 0.25 mL
--or--
ACCEPTABLE
0.5 mL plasma (Gn, green-top tube, lithium heparin), or
(Gn, green-top tube, sodium heparin), refrigerated (cold
packs)
Minimum: 0.25 mL
--or--
0.5 mL serum (R, red-top tube (no gel)), refrigerated (cold
packs)
Minimum: 0.25 mL
RT: 72 hours
Refrigerated (cold packs): 31 days
Frozen: 28 days
Hemolysis; Serum separator tube (SST)
PREFERRED
0.5 mL plasma (L, lavender-top tube, EDTA) refrigerated
(cold packs)
Minimum: 0.25 mL
--or--
ACCEPTABLE
0.5 mL plasma (Gn, green-top tube, lithium heparin), or
(Gn, green-top tube, sodium heparin), refrigerated (cold
packs)
Minimum: 0.25 mL
--or--
0.5 mL serum (R, red-top tube (no gel)), refrigerated (cold
packs)
Minimum: 0.25 mL
RT: 72 hours
Refrigerated (cold packs): 31 days
Frozen: 28 days
Minimum Volume
0.25 mL
Other Acceptable Specimens
0.5 mL Plasma (Min0.25 mL)
Green Top Lithium Heparin Tube; Refrigerated;
-OR-
0.5 mL Plasma (Min0.25 mL)
Green Top Sodium Heparin Tube; Refrigerated;
-OR-
0.5 mL Serum (Min0.25 mL)
Red-top tube (no gel); Refrigerated;
Green Top Lithium Heparin Tube; Refrigerated;
-OR-
0.5 mL Plasma (Min0.25 mL)
Green Top Sodium Heparin Tube; Refrigerated;
-OR-
0.5 mL Serum (Min0.25 mL)
Red-top tube (no gel); Refrigerated;
Transport Container
EDTA(lavender-top)
Transport Temperature
Refrigerated
Specimen Stability
Room Temperature: 3 days
Refrigerated: 31 days
Frozen: 28 days
Refrigerated: 31 days
Frozen: 28 days
Methodology
Mass Spectrometry
Setup Schedule
Wednesday All Shifts
Report available: 7 Days
Report available: 7 Days
Reference Range
Age
< 18 years: < or = 0.94 ng/mL
> or = 18 years: < or = 0.86 ng/mL
< 18 years: < or = 0.94 ng/mL
> or = 18 years: < or = 0.86 ng/mL
Clinical Significance
Gaucher disease (GD) is one of the most frequent
lysosomal disorders with a prevalence of 1:50,000 in the
general population. It is characterized by a deficiency
in the activity of the enzyme acid betaglucosidase, which
leads to accumulation of glucocerebroside within
lysosomes of macrophages, leading to hepatosplenomegaly,
bone marrow suppression, and bone lesions. Depending on
onset and symptoms, GD can be classified as
non-neuronopathic, which is the mildest and most common
phenotype in GD; the acute, neuronopathic form, which
represents the severest form of the disease and is fatal
within a few years; and the sub-acute, chronic
neuronopathic form. Non-neuronopathic GD is the
most common disease manifestation in the Ashkenazi Jewish
population and with a frequency of up to 1A1,000.
GenotypeCphenotype correlations have been described in
the literature. The most common examples are the mutation
N370S usually detected in patients with non-neuronopathic
GD carrying a milder burden of disease whereas e.g., the
mutation L444P is more frequently seen in the more severe
neuronopathic form of GD.
Recently, Lyso GL-1 (glucosyl-sphingolipid) has emerged
as a specific biomarker for GD. It is generated from the
accumulated substrate glucosylceramide (GL-1) by the
action of acid ceramidase. Being soluble in nature, Lyso
GL-1 exits the lysosomal system and accumulates in other
organs. The molecule is postulated to play a role in
various pathophysiological mechanisms including neuronal
injury in Gaucher patients by deregulating signal
transduction pathways via the inhibition of protein
kinase C.
lysosomal disorders with a prevalence of 1:50,000 in the
general population. It is characterized by a deficiency
in the activity of the enzyme acid betaglucosidase, which
leads to accumulation of glucocerebroside within
lysosomes of macrophages, leading to hepatosplenomegaly,
bone marrow suppression, and bone lesions. Depending on
onset and symptoms, GD can be classified as
non-neuronopathic, which is the mildest and most common
phenotype in GD; the acute, neuronopathic form, which
represents the severest form of the disease and is fatal
within a few years; and the sub-acute, chronic
neuronopathic form. Non-neuronopathic GD is the
most common disease manifestation in the Ashkenazi Jewish
population and with a frequency of up to 1A1,000.
GenotypeCphenotype correlations have been described in
the literature. The most common examples are the mutation
N370S usually detected in patients with non-neuronopathic
GD carrying a milder burden of disease whereas e.g., the
mutation L444P is more frequently seen in the more severe
neuronopathic form of GD.
Recently, Lyso GL-1 (glucosyl-sphingolipid) has emerged
as a specific biomarker for GD. It is generated from the
accumulated substrate glucosylceramide (GL-1) by the
action of acid ceramidase. Being soluble in nature, Lyso
GL-1 exits the lysosomal system and accumulates in other
organs. The molecule is postulated to play a role in
various pathophysiological mechanisms including neuronal
injury in Gaucher patients by deregulating signal
transduction pathways via the inhibition of protein
kinase C.
