Ehlers-Danlos syndrome [next-generation sequencing, 46 genes (NGS)]
Code: 3210
The availability and turnaround time of this test should be confirmed with the unit before collection.
- Method
- Next-generation sequencing (NGS)
- Collection requirements
- EDTA: Blood (5 mL)
- Sample stability
- Refrigerated at 2-8 °C
- Turnaround time
- 33 working days
- Preparation and notes
- IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday.
Genes tested(46 genes)
- ADAMTS2
- ALDH18A1
- ATP6V0A2
- ATP7A
- B3GALT6
- B4GALT7
- BGN
- C1R
- C1S
- CBS
- CHST14
- COL12A1
- COL1A1
- COL1A2
- COL3A1
- COL5A1
- COL5A2
- COL6A1
- COL6A2
- COL6A3
- DSE
- EFEMP2
- ELN
- FBLN5
- FBN1
- FBN2
- FKBP14
- FLNA
- GORAB
- LOX
- LTBP4
- PLOD1
- PRDM5
- PYCR1
- RIN2
- ROBO3
- SKI
- SLC39A13
- SMAD2
- SMAD3
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TNXB
- ZNF469