Testing

We understand that genetic information often outpaces the availability of diagnostic assays currently available. Therefore, when appropriate, we are happy to provide custom re-sequencing assays. If you are looking to request a specific test not currently listed in GeneTests, please contact our laboratory manager, Dan Dykas, via email or (203) 785-5745 to arrange for this service.

Tests

BRCA1/2 common Jewish mutations — CPT 81212

• Genes: BRCA1 (17q21) and BRCA2 (13q12.3)
• Methods: PCR and restriction enzyme digest screen for two mutations in BRCA1 (185delAG and 5382insC) and one mutation in BRCA2 (6174delT). Mutation confirmation by direct sequencing
• Indications: Jewish ancestry with a history of breast and ovarian cancer
• Turnaround time: Approximately 2 weeks (screen)

BRCA1/2 familial mutations — CPT 81215 (SS BRCA1) CPT 81217 (SS BRCA2)

• Genes: BRCA1 (17q21) and BRCA2 (13q12.3)
• Methods: PCR followed by direct sequencing
• Indications: Known familial mutations in BRCA1 or BRCA2
• Turnaround time: Approximately 2–4 weeks

Fragile X syndrome (Fragile Site Mental Retardation 1) — CPT 81243

• Gene: FMR1 Cytoband: Xq27.3
• Methods and queried regions: PCR, determination of CGG-repeat-length, southern blot
• Indications: Undiagnosed mental retardation, autism
• Turnaround time: Approximately 2 weeks

Gorlin syndrome (NBCCS, BCNS) — CPT 81479

• Gene: PTCH
• Cytoband: 9q22.3
• Methods and queried regions: Direct sequencing of coding exons (1B-23)
• Indications: Basal cell carcinoma, palmar and plantar pits, odontogenic keratocysts, calcification of falx cerebri, bifid ribs, ovarian fibroma
• Turnaround time: Approximately 8–12 weeks

Hereditary melanoma — CPT 81404

• Genes: CDKN2A (p16) and CDK4
• Cytobands: 9p21 and 12q14
• Direct sequencing of entire coding region of CDKN2A and exon 2 of CDK4
• Indications: Family history of melanoma
• Turnaround time: Approximately 4–6 weeks

Medium-chain acyl dehydrogenase deficiency (MCADD) — CPT 81406

• Gene: ACADM cytoband: 1p31
• Methods: PCR and restriction enzyme digest screen for A985G mutation, direct sequencing of coding exons (1–12)
• Indications: Lethargy, vomiting, coma, hypoglycemia, seizures, cardiac arrest.
• Turnaround time: Approximately 2 weeks (A985G screen); approximately 4 weeks (full sequence)

Multiple endocrine neoplasia Type I (MEN1) — CPT 81405

• Gene: MEN1
• Cytoband: 11q13
• Direct sequencing of coding exons (2–10)
• Indications: Pancreatic, parathyroid, and pituitary tumors, hyperparathyroidism, carcinoid, positive family history
• Turnaround time: Approximately 4–6 weeks

Multiple endocrine neoplasia Type II (MEN 2) — CPT 81405

• Gene: RET-proto-oncogene
• Cytoband: 10q11.2
• Methods and queried regions: Direct sequencing of exons 10, 11, 13, 14, 15, and 16
• Indications: Medullary thyroid carcinoma, isolated or associated with pheochromocytoma, hyperparathyroidism, ganglioneuromatosis, positive family history
• Turnaround time: Approximately 4–6 weeks

Ornithine transcarbamylase deficiency (OTCD) — CPT 81405

• Gene: OTC
• Cytoband: Xp21.1
• Methods and queried regions: Direct sequencing of coding exons (1–10)
• Indications: Hyperammonemia, aversion to dietary protein, elevated orotic acid
• Turnaround time: Approximately 4–6 weeks

Prader-Willi (PWS) and Angelman (AS) syndromes (BWS) — CPT 81331

• Etiology: Imprinting phenomena: Loss of function of paternal (PWS) or maternal (AS) copy of 15q11–13 (SNRPN gene)
• Testing: Methylation-specific PCR
• Turnaround time: Approximately 2–4 weeks

PTEN testing — CPT 81321

• Gene: PTEN
• Cytoband: 10q 23.31
• Methods and queried regions: PCR of coding region and promotor followed by direct sequencing
• Indications: Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndrome
• Turnaround time: Approximately 4–6 weeks

EXTENDED GENE PANEL — CPT code based on genes tested

Multi-gene panel; contact laboratory for details