Rett Syndrome (MECP2 sequencing)

Order Code: 328641

CPT Codes:  81302, G0452

Indication:  Carrier Screening; Clinical Diagnosis; Prenatal Diagnosis

Required Patient Information: Personal and Family History of clinical symptoms and/or previous test results (if any); For prenatal testing: LMP date or gestational age at the time of sample collection

Turn Around Time:  21 days

Specimen type:  Whole Blood, Amniotic Fluid, Chorionic Villi

Methodology: Bidirectional sequencing analysis for all four exons and the immediately flanking intronic sequences will be used to identify mutations within the coding region of MECP2 gene.

Other Requirements: A maternal blood sample is required for all prenatal specimens.

 

Rett Syndrome (MECP2 deletion/duplication analysis)


Order Code: 327288

CPT Codes: 81304, G0452

Indication: Carrier Screening; Clinical Diagnosis

Required Patient Information: Personal and Family History of clinical symptoms and/or previous test results (if any); For prenatal testing: LMP date or gestational age at the time of sample collection.

Turn Around Time: 14 days

Specimen type: Whole blood, Amniotic Fluid, Chorionic Villi 

Methodology: Multiplex ligation dependent probe amplification (MLPA) will be used to identify large deletions and duplications in MECP2.

Other Requirements: A maternal blood sample is required for all prenatal specimens