MOLECULAR STUDY ACONDROGENESIS TYPE 1B (GEN SLC26A2 ), MUTATIONAL SCREENING, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4295

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft tissue of the neck may be thickened. Death occurs prenatally or shortly after birth. The diagnosis of ACG1B rests on a combination of clinical, radiologic, and histopathologic features. SLC26A2 (DTDST) is the only gene in which mutation is currently known to cause ACG1B.
Links:
Achondrogenesis Type 1B - GeneReviews™ - NCBI Bookshelf
OMIM Entry - # 600972 - ACHONDROGENESIS, TYPE IB; ACG1B
OMIM Entry - - 606718 - SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2

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