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INFORMATION FOR

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 at dnalab@yale.edu 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-protooncogene
  • 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 2-4weeks
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

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