Collect

Blood in a purple (EDTA) top tube. Saliva is also acceptable.

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

28 days

Synonyms

  • BAP1, BRCA1, BRCA2, CDK4, CDKN2A, PTEN, RB1, TERT, TP53, and WRN
  • HMELP
  • Melanoma, Cancer Panel

LIS Mnemonic

HMELP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Reflex Testing

Reflex analysis of comprehensive hereditary panel

Clinical Features

The CHOP Hereditary Melanoma Panel utilizes next-generation sequencing technology to simultaneously analyze a panel of genes known to be associated with increased risk for melanoma. This test should be used when a patient's medical and family histories strongly suggest an underlying genetic etiology of cancer. Ten genes known to be associated with melanoma predisposition are analyzed using Next Generation Sequence (NGS) technology. The genes included in this panel are BAP1, BRCA1, BRCA2, CDK4, CDKN2A, PTEN, RB1, TERT, TP53, and WRN. All coding exons of the 10 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

81479 (x4), 81404, 81405, 81321, 81345, 81163
Collection

Collect

Blood in a purple (EDTA) top tube. Saliva is also acceptable.

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

28 days

Synonyms

  • BAP1, BRCA1, BRCA2, CDK4, CDKN2A, PTEN, RB1, TERT, TP53, and WRN
  • HMELP
  • Melanoma, Cancer Panel

LIS Mnemonic

HMELP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Reflex Testing

Reflex analysis of comprehensive hereditary panel

Clinical Features

The CHOP Hereditary Melanoma Panel utilizes next-generation sequencing technology to simultaneously analyze a panel of genes known to be associated with increased risk for melanoma. This test should be used when a patient's medical and family histories strongly suggest an underlying genetic etiology of cancer. Ten genes known to be associated with melanoma predisposition are analyzed using Next Generation Sequence (NGS) technology. The genes included in this panel are BAP1, BRCA1, BRCA2, CDK4, CDKN2A, PTEN, RB1, TERT, TP53, and WRN. All coding exons of the 10 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

81479 (x4), 81404, 81405, 81321, 81345, 81163