Specimen

Whole Blood

Collection Medium:

Minimum:

Adult minimum: 3 mL whole blood in lavendar top (EDTA) tube.
Children minimum: 2 mL whole blood in lavendar top (EDTA) tube.

Optional specimen type: Formalin Fixed paraffin embedded tissue; Fresh 
Frozen tissue.

Testing on smaller volumes than those requested will be attempted.
However, in some cases, small blood volumes may compromise the ability
to perform testing.

Rejection Criteria:

Testing requires a dedicated collection tube.

Delivery Instructions:

Room temperature up to 24 hours.  Refrigerate overnight, 
weekends and holidays.

Testing Schedule:

Weekly

Analytic Time:

21 days

Reference Range:

Normal

Comments:

Mutations in the fukutin gene (FCMD, OMIM #607440) cause disorders in 
the dystroglycanopathy spectrum, all with autosomal recessive 
inheritance.  FCMD mutations are known to cause Walker-Warburg syndrome 
at the severe end of the spectrum, and limb-girdle muscular dystrophy 
type 2L (LGMD2L) at the mild end of the spectrum.  Fukuyama congenital 
muscular dystrophy is an intermediate phenotype and is the second most 
common muscular dystrophy among Japanese people.

Methodology:

Sequence Analysis of the coding region of the FCMD gene.

CPT Code:

83912, 83890, 83901(x9), 83904(x9); if paraffin block or fresh tissue 
is submitted, remove CPT code 83890 and add 83907.