Lamin A/C Sequencing
| Order Code: | LAMINT |
| Order Form: | Muscular Dystrophy Molecular Genetics Requisition Molecular Genetics General Consult Requisition |
Specimen:
Whole Blood
Collection Medium:
 |
| Lavender top tube 3 mL (EDTA) |
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.
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
Lamin A/C Gene Sequencing Analysis Information