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Houston, Texas

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Medical Genetics Test Details

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Cancer Gene Mutation Panel - Targeted Mutation Detection by Next Generation Sequencing
Test Information: Most of cancers result from accumulation of multiple genetic alterations that lead to dysfunction of cancer-associated genes. These genetic alterations are important diagnostic, prognostic, and predictive biologic markers. Next generation sequencing technologies permit deep sequencing of hundreds of cancer genes concurrently. This targeted next generation sequencing test utilizes multiplex PCR with ion semiconductor sequencing (AmpliSeq, Ion Torrent/Life Technologies) to sequence a panel of key cancer gene mutations including many clinically actionable mutations. The test can provide important individual information regarding tumor development and progression, and a more reliable prediction of personalized cancer therapies.
Test Details
Test Code: 9700
Special Notes: This Cancer Gene Mutation Panel is designed to target 739 mutations in the following 46 key cancer genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNAS, HNF1A, HRAS, IDH1, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, and VHL. The full list of mutations targeted in this panel can be found at Cancer Gene Mutation Panel List.

This mutation panel is designed to detect targeted mutations only. The 46 genes are not sequenced in their entirety. Mutations outside the targeted regions will not be detected. The limit of detection is 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 castPCR™, pyrosequencing, or Sanger sequencing.
Technical Information
Methodology: Multiplex PCR followed by Next Generation Sequencing
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tubes and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) 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: Bone Marrow
Requirements: Draw bone marrow in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 2 cc (Infant< 2 years).
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) 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: FFPE - Slide(s)
Requirements: 10 unstained 5um FFPE slides containing adequate amounts of tumor to be analyzed with areas of tumor marked. Please include a copy of corresponding surgical pathology report.

Transport Temperature: sent at ambient temperature (18-25C/64-77F). Protect paraffin tissue from excessive heat. Ship in cooled container during summer months.

Unacceptable Conditions: No tumor in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives.

Stability: Ambient: Indefinitely; Refrigerated: Acceptable.
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Do not heat or freeze.


Specimen Type: FFPE - Tumor Block
Requirements: Paraffin-embedded, formalin-fixed tissue block containing adequate amounts of tumor to be analyzed with areas of tumor marked. Please include a copy of corresponding surgical pathology report.

Transport Temperature: sen tat ambient temperature (18-25C/64-77F) . Protect paraffin tissue from excessive heat. Ship in cooled container during summer months.

Unacceptable Conditions: No tumor in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives.

Stability: Ambient: Indefinitely; Refrigerated: Acceptable.

Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Do not heat or freeze.


Specimen Type: Fresh Frozen Tissue
Requirements: 150 mg (0.5-2.0 cm3) Fresh tissue snap frozen at -20C. Store at -20C.
Shipping Conditions: Ship on minimum of 10 lbs. of dry ice in an insulated container by overnight courier.

Specimen Type: Leukemic Blood
Requirements: Draw leukemic blood in a EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 2 cc (Infant<2yrs). (White count > 15,000 with at least 20% blasts).
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) 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: Other
Requirements: Please contact the laboratory to discuss other specimen types that may be acceptable.
Shipping Conditions: Please contact the laboratory to discuss if shipping other specimen types.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81202x1, 81203x1, 81210x1, 81235x1, 81270x1, 81275x1, 81310x1, 81322x1, 81323x1, 81401x1, 81402x1, 81403x1, 81404x1


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