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Disease Name: Boucher-Neuhauser syndrome

Genes Covered:

BMP2, CHD7, DCAF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HFE, KAL1, KISS1, LHB, LMNA, NDN, NSMF, PNPLA6, POLR3A, POLR3B, PROKR2, SEMA3A, SNRPN, SOX10, TAC3, TACR3, WDR11
Test Details Pricing

Panel: Strand Clinical Exome Test

Disorder Category: Hypogonadotropic hypogonadism

Turnaround Time: 5-6 weeks from receipt of sample in the lab

Sample Requirement:

  • 1. Blood in EDTA (purple top) tube shipped with ice pack (2-5 ml)
  • 2. Saliva or sputum in collection kit provided by Strand
  • 3. Cheek swab in the collection kit provided by Strand
  • 4. Purified genomic DNA (5-10 μg) in 10 mM Tris buffer (No EDTA)
  • 5. Dry blood spot

On request