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Paediatric Laboratory Medicine

Connective Tissue Disease: Deletion & Duplication Analysis

Background

See related pages for information sheet on Connective Tissue Disorders

Clinical Significance

See related pages for information sheet on Connective Tissue Disorders

Test Name

Connective Tissue Disease: Deletion & Duplication Analysis

Alternate Name/ Synonym

Connective Tissue Disease

Test Code

CT-Dosage

Division

Molecular Genetics

Method

Deletion & Duplication analysis by exon targeted microarray

External Proficiency Testing

CAP

Turn Around Time

4 weeks

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 10 ug of DNA in 100 uL low TE (pH8.0)

Special Requirements

Special Instructions for Genome Diagnostics Samples

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