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Paediatric Laboratory Medicine

Connective Tissue Disease: Ehlers-Danlos Syndrome Panel

Background

See related pages for information sheets on Conective Tissue Diseases: Ehlers-Danlos Syndrome

Clinical Significance

See related pages for information sheets on Conective Tissue Diseases: Ehlers-Danlos Syndrome.

Test Name

Connective Tissue Disease: Ehlers-Danlos Syndrome Panel

Alternate Name/ Synonym

CT: EDS panel

Gene Name

  • ACTA2
  • ADAMTS2
  • ATP7A
  • B4GALT7
  • CHST14
  • COL3A1
  • COL5A1
  • COL5A2
  • COL1A1
  • COL1A2
  • DSE
  • FBN2
  • FKBP14
  • PLOD1
  • PRDM5
  • SLC39A13
  • SMAD3
  • TGFB2
  • TGFBR1
  • TNXB
  • TGFBR2
  • ZNF469

Alternate Gene Name

ACTSA, ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI, MNK, D4ST1, HD4ST, D4ST-1, EDS4A, CCA, DA9, FLJ20731, FKBP22, LLH, PLOD, LH1, FLJ25785, MADH3, JV15-2, HsT17436, MSSE, ESS1, ALK-5, ACVRLK4, TNXB1, TNXB2, TNXBS, XBS, XB, XGALT-1, PFM2, MFS2, KIAA1858

Test Code

CT-Panel 1

Division

Molecular Genetics

Method

Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel. Please see Connective Tissue Disease: Deletion & Duplication analysis

External Proficiency Testing

CAP

Turn Around Time

3-4 weeks (Prenatal), 4-6 weeks (Pregnant or Urgent), 8-10 weeks (Routine)

Disease/Condition

Ehlers Danlos Syndrome

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)

Storage/Transportation

If sample shipment  >48 hours, ship on ice.

Special Requirements

Special Instructions for Genome Diagnostics Samples

Please ship us the blood sample within 48 hours of collection. 

Interpretation

Provided with report