Medical Genetics Test Details
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|Overgrowth Panel - Targeted Mutation Detection by Next Generation Sequencing|
|Test Information:||Recent studies have showed that a group of overgrowth syndromes, such as CLOVES and Proteus syndromes, are caused by somatic activating mutations in the genes involved in the PI3K-AKT signaling pathway, such as PIK3CA and AKT1. In addition, both germline and somatic mutations of PI3K-AKT pathway genes are responsible for two overlapping disorders, megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP). Other non-syndromic overgrowth features, such as isolated macrodactyly, are also associated with PIK3CA mutations. Due to the low-abundance nature of these mutations, routine Sanger sequencing often yields negative results. This next generation sequencing (NGS) based test targets all known mutations associated with overgrowth syndromes in multiple genes involved in the PI3K-AKT pathway. The panel also includes mutations in GNAS associated with McCune?Albright syndrome.
This panel is designed to target all known mutations associated with overgrowth syndromes in following 7 genes: AKT1, AKT2, AKT3, PIK3R2, MTOR, PIK3CA and GNAS.
This mutation panel is designed to detect targeted mutations only. The 7 genes are not all sequenced in their entirety. Mutations outside the targeted regions will not be detected. The limit of detection is approximately 5% at 500X coverage and 10% at 200X coverage. This technology cannot reliably detect mutations at coverage below 100X. Confirmation of mutations is performed by Sanger sequencing or other technologies established in our laboratory.
|Methodology:||Multiplex PCR followed by Next Generation Sequencing|
|Gene Name:||AKT1, AKT2, AKT3, PIK3R2, MTOR, PIK3CA and GNAS|
|Test Type:||Sequence Analysis|
|Sample & Shipping Information|
|Test Requisition:||Overgrowth Mutation Panel|
|Specimen Type:||Fresh Tissue|
|Requirements:||One 150mg (0.5-2.0cm3) fresh tissue from affected area AND normal tissue from unaffected area. For normal tissue, the following specimen types will be accepted:
Fresh Tissue (as source of normal DNA): One 150mg (0.5-2.0cm3) fresh tissue from normal area sealed in separated container with transport medium.
Peripheral Blood (as source of normal DNA): Draw blood in an EDTA (purple-top) tube(s). Send at least 5cc (children) or 10cc (adults).
Cultured Skin Fibroblasts (as source of normal DNA): Send two T25 flasks at 80-100% confluence.
NOTE: If sending unaffected tissue only, please send peripheral blood in EDTA (purple-top) tube(s). Please send 5 to 10cc. However, it is preferred to receive both affected and unaffected tissues. Not testing an affected tissue may decrease likelihood of detecting a mutation.
|Shipping Conditions:||Ship at ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. Fresh tissue specimens should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.
|Specimen Type:||Prenatal specimen|
|Requirements:||Please call to discuss specimen requirements.|
|Shipping Conditions:||Ship at ambient temperature in an insulated container by overnight courier.
|Turn Around Time:||28 days|
|List Price:||*For Insurance or Institutional Prices, please call.|