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Rett Syndrome via the MECP2 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
7271 MECP2 81302 81302,81304 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7271MECP281302 81302,81304 $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

  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Rett syndrome is a neurodevelopmental disorder that is one of the most frequent causes of intellectual disability in females. Rett syndrome patients display normal development during early infancy, but between 6 and 18 months undergo psychomotor regression in which they lose previously acquired skills (Neul et al. 2010. PubMed ID: 21154482). Other key features of Rett syndrome include language/communication dysfunction, microcephaly, stereotyped hand-wringing motions and seizures.

Variations of classic Rett syndrome, termed atypical Rett or Rett-like syndromes, have also been described. Atypical Rett syndome patients share major clinical features with classic Rett syndrome, but have variable secondary features such as bruxism, impaired sleep and growth retardation (Neul et al. 2010. PubMed ID: 21154482).

Genetics

Rett syndrome is an X-linked dominant disorder. The majority of Rett cases are sporadic and are caused by de novo mutations in the MECP2 gene. Rett syndrome predominantly affects females. The penetrance of MECP2 pathogenic variants is variable due to biases in X-inactivation. Hemizygous causative variants in MECP2 were believed to be lethal in males. However, rare male patients with pathogenic variants in MECP2 have also been reported with non-syndromic intellectual disability, absence of speech, neurodevelopmental delay, and epilepsy (Campos et al. 2007. PubMed ID: 17084570; Schönewolf-Greulich et al. 2016. PubMed ID: 26936630).

MECP2 pathogenic variants associated with Rett syndrome include single nucleotide changes, large and small insertions or deletions and chromosomal rearrangements. Despite the wide array of causative variants, eight recurrent pathogenic variants in MECP2 (R106W, R133C, T158M, R168X, R255X, R270X R294X, R306C) account for ~60% of all Rett syndrome cases (Guerrini and Parrini. 2012. PubMed ID: 22998673).

Methyl CpG-binding protein 2 (MeCP2) is a transcriptional repressor. MeCP2 binds to methylated CpG dinucleotides and interacts with a variety of chromatin remodeling complexes to establish a silent chromatin state at the methylated gene. The MeCP2 protein is highly expressed in neurons, and MeCP2-dependent gene regulation is important for proper neuronal maturation (Na and Monteggia. 2011. PubMed ID: 20515694).

Clinical Sensitivity - Sequencing with CNV PG-Select

Causative point variants in MECP2 are found in 80% of typical Rett syndrome cases and 40% of atypical Rett syndrome cases (Christodoulou and Ho. 2012. PubMed ID:20301670).

Testing Strategy

This test provides full coverage of all coding exons of the MECP2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for MECP2 testing include individuals who display the following symptoms of classic Rett syndrome: a period of normal development followed by psychomotor regression, loss of acquired language skills, gait impairment and stereotyped hand movements (hand-wringing) (Neul et al. 2010. PubMed ID: 21154482).

Gene

Official Gene Symbol OMIM ID
MECP2 300005
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Rett Syndrome XL 312750

Citations

  • Campos et al. 2007. PubMed ID: 17084570
  • Christodoulou and Ho. 2012. PubMed ID: 20301670
  • Guerrini and Parrini. 2012. PubMed ID: 22998673
  • Na and Monteggia. 2011. PubMed ID: 20515694
  • Neul et al. 2010. PubMed ID: 21154482
  • Schönewolf-Greulich et al. 2016. PubMed ID: 26936630

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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