ISPD Full Gene Sequence with Interpretation
Label Mnemonic: ISPD
Epic Lab Code: LAB7640
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Whole Blood or Tissue
Optional specimen type: Formalin Fixed paraffin embedded tissue; Fresh Frozen tissue.
Collection Medium:
or and
Pink top tube 6 mL (K2-EDTA) Lavender top tube 3 mL (EDTA) Lavender top tube 3 mL (EDTA)
Minimum:
2-3 mL whole blood in pink or TWO lavender top tubes. Smaller volumes than those requested will be attempted may compromise the ability to perform testing if insufficient DNA is obtained from the specimen.
Rejection Criteria:
Testing requires a dedicated collection tube.
Delivery Instructions:
Room temperature up to 24 hours. Refrigerate overnight, weekends and holidays.
Testing Schedule:
Weekly
Turn Around Time:
21 days
Reference Range:
Normal
Comments:
Mutations in the isoprenoid synthase domain containing (ISPD) gene (OMIM #614631) have been shown to cause Walker-Warburg syndrome (WWS) (now identified as muscular dystrophy-dystroglycanopathy type A,7). WWS is characterized by congenital muscular dystrophy, hydrocephalus, agyria, retinal dysplasia, with or without encephalocele.
Methodology:
Sequence analysis of the 10 coding exons and flanking intronic regions of the ISPD (Isoprenoid synthase domain containing gene).
CPT Code:
81405