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Rett syndrome

Rett syndrome is a progressive, neuro-developmental disorder that affects approximately 1 in 10,000 females. Classic Rett syndrome is diagnosed based on a defined set of clinical criteria and characterized by apparently normal development in the first 6-18 months, followed by an arrest in development and subsequent regression in language and motor skills. Frequent symptoms include […]

Rett syndrome is a progressive, neuro-developmental disorder that affects approximately 1 in 10,000 females. Classic Rett syndrome is diagnosed based on a defined set of clinical criteria and characterized by apparently normal development in the first 6-18 months, followed by an arrest in development and subsequent regression in language and motor skills. Frequent symptoms include loss of speech and purposeful hand use, stereotypic hand movements, ataxia, microcephaly, and seizures. “Atypical” Rett syndrome can be milder or more severe than typical Rett syndrome and is diagnosed when some but not all clinical criteria for Rett syndrome are present. The milder form may include mental retardation, mild learning disablilities and/or autism. Mutations in the MECP2 gene have been found to cause Rett syndrome and “atypical” Rett syndrome in females. In males, MECP2 mutations are not as common and responsible for a broad spectrum of neurodevelopmental phenotypes, ranging from severe neonatal encephalopathy to a variety of neuropsychiatric features or mild mental retardation. Rarely, males with a progressive neurodevelopmental syndrome, including mental retardation, spasticity, speech and social problems, have been found to have a duplication or triplication of the MECP2 gene.

CDKL5 mutations have been associated with X-linked mental retardation and a broad spectrum of neurological symptoms that show broad overlap with atypical Rett syndrome and Angelman syndrome. The majority of patients are females. Most patients have a severe phenotype with early-onset encephalopathy and infantile spasms, global developmental delay and mental retardation, although cases with much milder symptoms have been reported.

Tests Available

Epilepsy Del/Dup Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ADSL, ALDH7A1, ALG13, ARHGEF9, ARID1B, ARX, ATP1A2, ATP6AP2, ATRX, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CSTB, CTSD, DNAJC5, DYRK1A, EEF1A2, EHMT1, EPM2A, FOLR1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NR2F1, NRXN1, OPHN1, PCDH19, PHF6, PIGA, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC9A6, SMC1A, SPTAN1, STXBP1, SYNGAP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
Lab Method:
Exon Array CGH

ORDERING

Test Code:
953
Turnaround Time:
4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL)

BILLING

CPT Codes:
81304x1, 81403x1, 81405x3, 81406x2
New York Approved:
No
ABN Required:
Yes
Billing Information:
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* For price inquiries please email zebras@genedx.com

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