Laboratory Medicine
Test catalogue
Skeletal Dysplasias: Hypochondrodysplasia (HCH, Hypochondrodysplasia) | |
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Test NameSkeletal Dysplasias: Hypochondrodysplasia (HCH, Hypochondrodysplasia) |
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Specimen Type / RequirementsContainer Type = 2 Lavenders (EDTA) Minimum Testing Volume = 5- 10ml Whole Blood Lavenders or ACD 0.5 mL EDTA (neonate) Tube must fill to at least ½ or greater of its vacuum capacity |
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Specimen HandlingCollection Instructions: Collect in Lavender (Purple EDTA) top. Write your initials, date and time of collection on the collection label or requisition. Special Instructions The specimen should be shipped on a Monday, Tuesday or Wednesday so that the Laboratory will receive the specimen within 24-48 hours after collection. Ship at room temperature. If there is a delay in the shipping of specimen (i.e.>48 hours), the sample should be placed in the refrigerator and shipped to Laboratory on ice Rejection Criteria: Serum , plasma or Grossly hemolyzed . Unlabeled or Not Sufficient Quantity Samples will be rejected. Stability: Stable at room temperature for 24 - 48hours, refrigerated for 7 Days. Transportation: Send sample to core lab as soon as possible. |
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Required Documentation |
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Turnaround Time (TAT)2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine) |
Test UtilizationRoutine |
Reference ValueSee Report |
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Test codeMISCS |
MethodTargeted analysis of recurrent mutations |
Testing LocationReferred Out – ON, Canada (ROSK01) |
Other Information
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