Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
CT: EDS panel
Alternate Gene Names
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
Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel by exon targeted microarray.
Blood; gDNA. 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 Type and Requirements
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Blood-Room Temperature. Please contact the Genome Diagnostics Laboratory if you want to send gDNA.
If sample shipment >48 hours, ship on ice.
Special Instructions for Genome Diagnostics Samples
Please ship us the blood sample within 48 hours of collection.
Ehlers Danlos Syndrome
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