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Paediatric Laboratory Medicine

Connective Tissue Disorder: Familial Variant

Background

See related pages for information sheets on Conective Tissue Diseases

Clinical Significance

See related pages for information sheets on Conective Tissue Diseases

Test Name

Connective Tissue Disorder: Familial Variant

Alternate Name/ Synonym

CT: Familial Variant

Test Code

CT-FAM

Division

Molecular Genetics

Method

Sequencing (all familial variants) by Sanger sequencing

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal), 3-4 weeks (Pregnant or Urgent), 8-10 weeks (Routine)

Specimen Type

Blood; please contact the Genome Diagnostics Laboratory if you want to send gDNA. If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.


For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate); minimum 2-3 ug of DNA in 100 uL low TE (pH8.0)

Storage/Transportation

If sample shipment  >48 hours, ship on ice.

Special Requirements

Special Instructions for Genome Diagnostics Samples

Interpretation

Provided with report.

For more information, please see information sheet under specific condition.