Two new Cancer Gene Mutation Panels launched by the CGL, including a leukemia-specific mutation panel, showing the importance and need for Next Generation Sequencing:
Test Information
Cancer Gene Mutation Panel Version 2 – Targeted Mutation Detection by Next Generation Sequencing | ||
---|---|---|
Test Information: | Most 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: | 9705 | |
Special Notes: | This Cancer Gene Mutation Panel is designed to target 2,855 mutations in the following 50 key cancer genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZF2, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, IDH2, 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 v2. This mutation panel is designed to detect targeted mutations only. The 50 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: | Cancer Molecular Tumor | |
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 (18-25°C/64-77°F) in an insulated container by overnight courier. 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 (18-25°C/64-77°F) 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 (18-25°C/64-77°F). 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 (18-25°C/64-77°F) 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: sent at ambient temperature (18-25°C/64-77°F). 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 (18-25°C/64-77°F) 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 -20°C. Store at -20°C. | |
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 (18-25°C/64-77°F) 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: | 7-14 days | |
Billing Information | ||
---|---|---|
List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 83891×1, 83892×2, 83894×2, 83912×1, 83898×190, 83904×190, 83909×2, 83900×1, 83901×188 |
Leukemia Mutation Panel – Targeted Mutation Detection by Next Generation Sequencing | ||
---|---|---|
Test Information: | Leukemia results from accumulation of multiple genetic alterations that lead to aberrant hematopoietic proliferation and differentiation. 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: | 9715 | |
Special Notes: | This panel is designed to target over 3,000 mutations in the following 48 key cancer genes associated with leukemia: ABL1, ASXL1, BRAF, CBL, CDKN2A, CEBPA, CREBBP, CRLF2, CSF1R, CTCF, DNM2, DNMT3A, EED, EP300, ETV6, EZH2, FBXW7, FLT3, GATA1, HRAS, IDH1, IDH2, IKZF1, IKZF3, IL7R, JAK2, JAK3, KIT, KRAS, MPL, NOTCH1, NPM1, NRAS, PAX5, PDGFRA, PHF6, PTEN, PTPN11, RELN, RUNX1, SF3B1, SRSF2, SUZ12, TAL1, TET2, TP53, U2AF1, WT1. This mutation panel is designed to detect targeted mutations only. The 48 genes are not all 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: | Cancer Molecular Tumor | |
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 (18-25°C/64-77°F) 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 (18-25°C/64-77°F). 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 (18-25°C/64-77°F) 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: sent at ambient temperature (18-25°C/64-77°F). 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 (18-25°C/64-77°F) 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 -20°C. Store at -20°C. | |
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 (18-25°C/64-77°F) 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: | 7 – 14 days | |
Billing Information | ||
---|---|---|
List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 83891×1, 83892×2, 83894×2, 83912×1, 83898×190, 83904×190, 83909×2, 83900×1, 83901×188 |