Specimen:

Whole Blood

Collection Medium:

Minimum:

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

Testing
Schedule:

Weekly

Analytic Time:

21 days

Reference Range:

Normal

Comments:

Mutations in the lamin A/C gene are known to cause a range of clinical 
disease.

Please use the Molecular Genetics Muscular Dystrophy Consult 
Requisition when ordering the following:
  Charcot-Marie-Tooth Disease, Axonal type 2B1, CMT2B1
  Emery-Dreifuss Muscular Dystrophy, autosomal dominant, EDMD2
  Emery-Dreifuss Muscular Dystrophy, autosomal recessive, EDMD3
  Limb-Girdle Muscular Dystrophy type 1b, LGMD1B
  LMNA-Related Dilated Cardiomyopathy, CMD1A

Use the Molecular Genetics General Consult Requisition for all other 
diagnoses:
  Familial Partial Lipodystrophy, Dunnigan type, FPLD2
  Hutchinson-Gilford Progeria Syndrome, HGPS
  Mandibuloacral Dysplasia with Type A Lipodystrophy, MADA
  Restrictive Dermopathy, RD

Methodology:

Sequence analysis of the coding region of the LAMIN A/C gene.

Sample
Processing:

Lavender tube is sent as whole blood, no processing necessary.

Sample
Storage:

Room temperature for up to 24 hours, then refrigerate the whole blood 
if it is necessary to be held overnight, or weekends, or holidays.

Transport
Instructions:

Place specimen into styrofoam container, seal container.
DO NOT FREEZE, protect specimen by wrapping in bubble-wrap or toweling.
Recommend express mail or equivalent if not on courier service.
Ship at ambient temperature.

CPT Code:

83890, 83898(x7), 83904(x7), 83912; if paraffin block or fresh tissue 
is submitted, remove CPT code 83890 and add 83907.

See Additional Information:
Lamin A/C Gene Sequencing Analysis Information