Spastic Paraplegia 75 via the MAG 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 | |
|---|---|---|---|---|---|
| 8315 | MAG | 81479 | 81479,81479 | $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.
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
Spastic Paraplegia 75 (SPG75) is a type of hereditary spastic paraplegia (HSP) that has been recently described. Based on the SPG75 cases reported so far, patients with this disorder usually show childhood onset of muscle stiffness, weakness and cognitive impairments. A few patients may have nystagmus, optic atrophy, ataxia and peripheral neuropathy (Novarino et al., 2014. PubMed ID: 24482476; Lossos et al., 2015. PubMed ID: 26179919; Roda et al., 2016. PubMed ID: 27606346).
Genetics
The inheritance pattern of SPG75 in the family reported was consistent with autosomal recessive transmission. SPG75 is caused by pathogenic variants in the MAG gene. The MAG gene encodes myelinâ€associated glycoprotein (MAG), which is a cell adhesion molecule that is important for myelination and axon–glial interactions during nerve regeneration (Quarles et al., 2007. PubMed ID: 17241126; Lossos et al., 2015. PubMed ID: 26179919). To date, only a few cases with homozygous missense variants in the MAG gene have been reported (Human Gene Mutation Database). For example, Lossos et al. (2015) identified p.Ser133Arg in a homozygous state in 3 siblings born of consanguineous Palestinian parents.
Clinical Sensitivity - Sequencing with CNV PGxome
It is difficult to estimate the exact clinical sensitivity of this test due to the lack of large cohort studies. All the pathogenic variants in the MAG gene reported to date can be detected by sequencing.
Testing Strategy
This test provides full coverage of all coding exons of the MAG 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
Patients with symptoms consistent with AR HSP may consider this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MAG.
Patients with symptoms consistent with AR HSP may consider this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MAG.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| MAG | 159460 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Spastic Paraplegia 75 | AR | 616680 |
Citations
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.