Collect

Blood in EDTA (purple top) tube.

Storage/Transport Temperature

Room temperature

Performed

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

Volume Required

3-5 mL

Minimum Required

1.5mL

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).

Reported

4-8 weeks

Synonyms

  • CDC73, CDKN1B, MAX, MEN1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL
  • HENDP

LIS Mnemonic

HENDP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Reflex Testing

Analysis of the comprehensive hereditary panel

Clinical Features

The CHOP Hereditary Endocrine Cancer Panel utilizes next-generation sequencing technology to simultaneously analyze a panel of genes known to be associated with increased risk for endocrine cancers. This test should be used when a patient's medical and family histories strongly suggest an underlying genetic etiology of cancer. Fifteen genes known to be associated with endocrine tumor predisposition are analyzed using Next Generation Sequence (NGS) technology. The genes included in this panel are CDC73, CDKN1B, MAX, MEN1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, and VHL. All coding exons of the 15 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

81437
Collection

Collect

Blood in EDTA (purple top) tube.

Storage/Transport Temperature

Room temperature

Performed

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

Volume Required

3-5 mL

Minimum Required

1.5mL

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).

Reported

4-8 weeks

Synonyms

  • CDC73, CDKN1B, MAX, MEN1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL
  • HENDP

LIS Mnemonic

HENDP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Reflex Testing

Analysis of the comprehensive hereditary panel

Clinical Features

The CHOP Hereditary Endocrine Cancer Panel utilizes next-generation sequencing technology to simultaneously analyze a panel of genes known to be associated with increased risk for endocrine cancers. This test should be used when a patient's medical and family histories strongly suggest an underlying genetic etiology of cancer. Fifteen genes known to be associated with endocrine tumor predisposition are analyzed using Next Generation Sequence (NGS) technology. The genes included in this panel are CDC73, CDKN1B, MAX, MEN1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, and VHL. All coding exons of the 15 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

81437