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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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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 aslo 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.
Test Details
Test Code: 9720
Special Notes: 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.
Technical Information
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 one 150mg (0.5-2.0cm3) fresh tissue from normal area sealed in separated container with transport medium.
Shipping Conditions: Ship with ice packs in an insulated container by overnight courier. Specimen 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
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479 x 7


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