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Cerebral Cavernous Malformation (KRIT1, CCM2, PDCD10)
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General
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Clinical Use:
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Genetic testing, differential diagnosis, predictive testing and prenatal testing.
KRIT1 analysis by sequencing and MLPA. CCM2 and PDCD10 by MLPA only. |
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Availability:
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Samples are tested Monday-Friday.
Prenatal diagnosis must be arranged prior - please contact laboratory well in advance of sample collection date.
Molecular Genetics reports are issued in hardcopy to requesting doctor only. |
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Aliases/Synonyms:
| CCM, CCM2, Familial Cavernous Hemangioma, Familial Cerebral Cavernous Angioma, Familial Cerebral Cavernous Malformation, KRIT1, PDCD10, |
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Code:
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GCCM |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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Reference Interval:
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Refer to report or laboratory
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Collection Requirements
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Container:
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EDTA (LAV9), |
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Sample Type:
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See container |
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Minimum Collection Volume:
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2mL |
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Collection Instructions:
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Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Store sample at room temperature. |
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Minimum Assay Volume:
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2mL |
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Stability:
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7 days ambient |
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Transport Instructions (to testing laboratory):
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Send sample ambient. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Molecular Genetics |
Diagnostic Genomics |
QEII Medical Centre |
6383 4243 |
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Last Updated : 03-10-2020 08:35 |