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Albinism, isolated and syndromic forms (18-gene panel, NGS)

Code: 10194

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 (10 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. Clinical history and family history are mandatory.

Genes tested(18 genes)

  • GPR143
  • OCA2
  • SLC45A2
  • TYRP1
  • MC1R
  • SLC24A5
  • LYST
  • HPS1
  • AP3B1
  • HPS3
  • HPS4
  • HPS5
  • HPS6
  • DCT
  • DTNBP1
  • BLOC1S5
  • BLOC1S3
  • BLOC1S6

Specialties

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