Laminopathies via the LMNA Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 12037 | LMNA | 81406 | 81406,81479 | $990 | Order Options and Pricing |
Pricing Comments
Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Clinical Features
Lamin A/C (LMNA) codes for isoforms A and C of the protein lamin, a structural component of the nuclear membrane. Mutations in LMNA are known to cause at least 8 distinct clinical disorders (Genschel and Schmidt. Hum Mut 16:451-459, 2000).
| Disorder Name | OMIM ID |
| Charcot-Marie-Tooth disease type 2B1, recessive (CMT2B1) | 605588 |
| Dilated cardiomyopathy, dominant (CMD1A) | 115200 |
| Dunnigan-type familial partial lipodystrophy, dominant (FPLD2) | 151660 |
| Emery-Dreifuss muscular dystrophy, dominant (EMD2D2) | 181350 |
| Emery-Dreifuss muscular dystrophy, recessive (EDMD3) | 604929 |
| Hutchinson-Gilford progeria syndrome, de novo (HGPS) | 176670 |
| Limb-girdle muscular dystrophy type 1B, dominant (LGMD1B) | 159001 |
| Restrictive dermopathy, recessive (RD) | 275210 |
Genetics
With the exceptions of EDMD3, CMT2B1 and RD, the laminopathies are inherited as autosomal dominant or de novo conditions. Mutations are distributed throughout the gene and, although all types of changes have been reported, the vast majority cause amino acid substitutions.
Sequencing of exon 11 of the LMNA gene, revealed that 18 out of 20 classical cases of HGPS harbored an identical de novo single-base substitution, c.1824 C>T (p.Gly608Gly) (Eriksson et al., Nature 423: 293-298, 2003). One additional de novo case was identified with a c.1822G>A substitution (p.Gly608Ser) within the same codon. Both of these mutations result in activation of a cryptic splice site within exon 11, resulting in production of a protein product that deletes 50 amino acids near the carboxy terminus.
Clinical Sensitivity - Sequencing with CNV PGxome
Diagnosis of some laminopathies is complicated by genetic heterogeneity. Thus, a negative LMNA sequencing test may not rule-out a diagnosis of these disorders when classic clinical findings are present. In cases of RD, evaluation of the ZMPSTE24 gene is also indicated (Navarro et al. Hum Mol Genet 13:2493-2503, 2004). Evaluation of muscle biopsy, if available, is a reasonable diagnostic approach to patients with symptoms suggesting muscle pathology.
Testing Strategy
This test provides full coverage of all coding exons of the LMNA gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).
Indications for Test
Suspected diagnosis of any of the laminopathies.
Suspected Hutchinson-Gilford Progeria Syndrome. ***Given the rarity and severity of this condition, PreventionGenetics feels that it is important that all physicians ordering this testing for HGPS or other progeroid syndromes contact the Progeria Research Foundation (http://www.progeriaresearch.org/) for the latest information on treatment, research and patient support.***
This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LMNA.
Suspected diagnosis of any of the laminopathies.
Suspected Hutchinson-Gilford Progeria Syndrome. ***Given the rarity and severity of this condition, PreventionGenetics feels that it is important that all physicians ordering this testing for HGPS or other progeroid syndromes contact the Progeria Research Foundation (http://www.progeriaresearch.org/) for the latest information on treatment, research and patient support.***
This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LMNA.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| LMNA | 150330 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
Citations
- Eriksson, M., et.al. (2003). "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome." Nature 423(6937): 293-8. PubMed ID: 12714972
- Genschel J, Schmidt HH. 2000. Mutations in the LMNA gene encoding lamin A/C. Hum. Mutat. 16: 451–459. PubMed ID: 11102973
- Navarro, C. L., et.al. (2004). "Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy." Hum Mol Genet 13(20): 2493-503. PubMed ID: 15317753
Ordering/Specimens
Ordering Options
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
Requisition Form
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.
For Requisition Forms, visit our Forms page
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.