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Feingold Syndrome

Feingold Syndrome 1

Gene: MYCN

Protein: N-myc proto-oncogene protein

Feingold Syndrome 2

Gene: MIR17HG

Transcript: MIR17-92 cluster (primary transcript for microRNAs MIR17, MIR18, MIR19A, MIR19B, MIR20 and MIR92)

Clinical Characteristics

  • Microcephaly
  • Short palpebral fissures
  • Gastrointestinal atresia
  • Digital abnormalities:
    • Brachymesophalangy 2 and 5
    • Thumb hypoplasia
    • 2-3 or 4-5 toe syndactyly
  • Normal intelligence or mild to moderate learning disability
  • Variable expressivity within and between families

Inheritance pattern: Autosomal dominant

What Can Be Learned From This Test

Testing is performed by sequencing exon 1, coding exons 2 and 3, and the surrounding intronic regions of the MYCN gene. Gene dosage by capillary electrophoresis will be performed (on mutation negative samples) to detect a whole or partial gene deletion, since deletions of the entire MYCN gene have been reported in affected individuals.

Gene deletion testing of the MIR17-92 cluster region will be performed by capillary electrophoresis to determine copy number within the MIR17HG gene.

Sequence analysis of MYCN detects mutations in 65% of individuals with a clinical suspicion of Feingold syndrome. Deletion testing of MYCN detects another 10%. Deletion of MIR17HG accounts for additional cases of Feingold syndrome, but specific detection rate is unknown.

MYCN and MIR17HG are the only genes known to be associated with Feingold syndrome. A negative test for both genes does not rule out a diagnosis of Feingold syndrome, since there may be other genes involved.

Sample Requirements

Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).

Turnaround time: 10-14 business days per gene

CPT Codes and Cost

Full Gene Sequencing and Dosage MYCN

  • Code: 81479
  • Cost: $550

Gene Dosage MIR17HG

  • Code: 81479
  • Cost: $300

Known Variant Testing

  • Code: 81479
  • Cost: $225

Additional Information