SLC26A2 single gene test

PLUSbpg-method

Test code: S01695

Phenotype information

  • Diastrophic dysplasia
  • Atelosteogenesis type 2
  • De la Chapelle dysplasia
  • Recessive Multiple Epiphyseal dysplasia
  • Achondrogenesis type 1B

Alternative gene name

DTDST

Panels that include the gene

Gene Genomic location HG19 HGVS RefSeq RS-number Comment Reference
SLC26A2 Chr5:149340544 c.-26+2T>C NM_000112.3 rs386833492

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For pricing inquiries, please contact (support@blueprintgenetics.com) or call the sales support team +358 40 2511 372.

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Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.

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