Collect

Blood in an EDTA (purple-top) tube.

Storage/Transport Temperature

Room Temperature

Performed

Monday-Friday 9:00am - 4:00pm

Volume Required

3-5 mL

Minimum Required

1.5 mL

Phlebotomy Draw

Yes

Performed

Monday-Friday 9:00am - 4:00pm

Methodology

Targeted Capture followed by Massively Parallel Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA), and/or Array CGH Analysis (aCGH) when needed.

Reported

6 weeks

Synonyms

  • CNS tumor, PNS Tumor, Brain Tumor Panel
  • ALK, APC, ATM, KRAS, MEN1, MLH1, MSH2, MSH6, PMS2, NBN, NF1, NF2, PALB2, PHOX2B, PTCH1, SMARCB1, SUFU, TP53, VHL
  • HBRAP

LIS Mnemonic

HBRAP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Reflex Testing

REFLEX TO COMP. HERED. PANEL (Analysis only)

Test Notes

Targeted Capture followed by Massively Parallel Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA), and/or Array CGH Analysis (aCGH) when needed.

Clinical Features

The CHOP Hereditary Brain Tumor Panel uses next-generation sequencing to simultaneously analyze a panel of genes known to be associated with an increased risk of brain tumors, central nervous system (CNS) neoplasms, and paraneoplastic neurological syndromes (PNS). This test should be used for patients whose medical and family histories strongly suggest an underlying genetic etiology of cancer and for at risk family members. Fourteen genes known to be associated with brain tumor, CNS neoplasm, and PNS predisposition are analyzed using Next Generation Sequence (NGS) technology. The genes included in this panel are ALK, APC, ATM, KRAS, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PALB2, PHOX2B, PMS2, PTCH1, SMARCB1, SUFU, TP53, and VHL.

Molecular Testing Notes

All coding exons of the 19 genes and 20 base pairs of 5' and 3' flanking intronic sequences are analyzed. All known intronic mutations of these genes are also evaluated. Pathogenic/likely pathogenic variants detected by NGS are confirmed by Sanger sequencing. The panel also evaluates gross copy number variations of these genes by analyzing NGS data, and by MLPA and/or aCGH when necessary. Certain genes or exons may not be evaluated for gross copy number variations, such as genes with no known gross deletion/duplication mutations, or genes or exons with pseudogenes or highly homologous sequences in the genome.

CPT Codes

81445
Collection

Collect

Blood in an EDTA (purple-top) tube.

Storage/Transport Temperature

Room Temperature

Performed

Monday-Friday 9:00am - 4:00pm

Volume Required

3-5 mL

Minimum Required

1.5 mL

Phlebotomy Draw

Yes
Ordering

Performed

Monday-Friday 9:00am - 4:00pm

Methodology

Targeted Capture followed by Massively Parallel Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA), and/or Array CGH Analysis (aCGH) when needed.

Reported

6 weeks

Synonyms

  • CNS tumor, PNS Tumor, Brain Tumor Panel
  • ALK, APC, ATM, KRAS, MEN1, MLH1, MSH2, MSH6, PMS2, NBN, NF1, NF2, PALB2, PHOX2B, PTCH1, SMARCB1, SUFU, TP53, VHL
  • HBRAP

LIS Mnemonic

HBRAP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Reflex Testing

REFLEX TO COMP. HERED. PANEL (Analysis only)

Test Notes

Targeted Capture followed by Massively Parallel Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA), and/or Array CGH Analysis (aCGH) when needed.

Clinical Features

The CHOP Hereditary Brain Tumor Panel uses next-generation sequencing to simultaneously analyze a panel of genes known to be associated with an increased risk of brain tumors, central nervous system (CNS) neoplasms, and paraneoplastic neurological syndromes (PNS). This test should be used for patients whose medical and family histories strongly suggest an underlying genetic etiology of cancer and for at risk family members. Fourteen genes known to be associated with brain tumor, CNS neoplasm, and PNS predisposition are analyzed using Next Generation Sequence (NGS) technology. The genes included in this panel are ALK, APC, ATM, KRAS, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PALB2, PHOX2B, PMS2, PTCH1, SMARCB1, SUFU, TP53, and VHL.

Molecular Testing Notes

All coding exons of the 19 genes and 20 base pairs of 5' and 3' flanking intronic sequences are analyzed. All known intronic mutations of these genes are also evaluated. Pathogenic/likely pathogenic variants detected by NGS are confirmed by Sanger sequencing. The panel also evaluates gross copy number variations of these genes by analyzing NGS data, and by MLPA and/or aCGH when necessary. Certain genes or exons may not be evaluated for gross copy number variations, such as genes with no known gross deletion/duplication mutations, or genes or exons with pseudogenes or highly homologous sequences in the genome.
Result Interpretation
Administrative

CPT Codes

81445