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Laboratory Medicine

Test catalogue

Skeletal Dysplasias: Thanatophoric Dysplasia (TD,Thanatophoric dwarfism)

Test Name

Skeletal Dysplasias: Thanatophoric Dysplasia (TD,Thanatophoric dwarfism)

Lavender Tube Specimen Type / Requirements

Container Type = 2 Lavenders (EDTA)

Minimum 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

Specimen Handling

Collection 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.

Required Documentation

Turnaround Time (TAT)

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Test Utilization

Routine

Reference Value

See Report

Test code

MISCS

Method

Targeted analysis of recurrent mutations

Testing Location

Referred Out – ON, Canada (ROSK01)

Other Information