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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8125 RIN2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8125RIN281479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

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.

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

Name
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via the ALDH18A1 Gene
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via the ATP6V0A2 Gene
Cutis Laxa via the PYCR1 Gene
Cutis Laxa, Type 1B (ARCL1B) via the EFEMP2 Gene
Geroderma Osteodysplasticum (GO) via the GORAB Gene
Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene

Citations

  • Basel-Vanagaite et al.  RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeAm 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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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