Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via the RIN2 Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 8125 | RIN2 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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
Macrocephaly, alopecia, cutis laxa, and scoliosis (MACS; OMIM 613075) is a newly recognized connective tissue syndrome. In addition to the major phenotypes as described by its name, the syndrome may manifest progressive facial coarsening, gingival hypertrophy, and joint hyperlaxity. Other features include down-slanting palpebral fissures, puffy eyelids, sagging cheeks, crowded teeth, mild ichthyosis, and urethral stenosis. Ultrastructure studies demonstrated diminished dermal elastic microfibrils in skin, which may correlate with the skin phenotypes in the syndrome (Basel-Vanagaite et al. Am J Hum Genet 85:254-263, 2009; Syx et al. Hum Genet 128:79-88, 2010).
Genetics
MACS is an autosomal recessive disorder caused by variants in RIN2 gene. RIN2 encodes the Ras and Rab interactor 2 (RIN2) protein, a guanine nucleotide exchange factor for GTPase Rab5, which is involved in membrane trafficking in early endocytosis. RIN2 protein interacts with GTPase Rab5 to regulate the process of endocytosis. Variants in RIN2 may impair intracellular trafficking and may prevent the signals of the endocytic process. Two homozygous truncating variants, c.1731delC in exon 8 and c.1914_1915delGC in exon 9, were reported in three unrelated consanguineous MACS/RIN2 syndrome families (Basel-Vanagaite et al. Am J Hum Genet 85:254-263, 2009; Syx et al. Hum Genet 128:79-88, 2010).
Clinical Sensitivity - Sequencing with CNV PG-Select
MACS is a newly recognized rare syndrome. So far, only two RIN2 variants were reported in three affected families (Basel-Vanagaite et al. Am J Hum Genet 85:254-263, 2009; Syx et al. Hum Genet 128:79-88, 2010).
Testing Strategy
This test provides full coverage of all coding exons of the RIN2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
Individuals with clinical features consistent with MACS. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in RIN2.
Individuals with clinical features consistent with MACS. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in RIN2.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| RIN2 | 610222 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis | AR | 613075 |
Related Tests
Citations
- Basel-Vanagaite et al. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet 85(2):254-263, 2009. PubMed ID: 19631308
- Syx et al. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Hum Genet 128(1):79-88, 2010. PubMed ID: 20424861
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
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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.