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Disease Name: Nestor-Guillermo progeria syndrome

Genes Covered:

ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, MMP14, MMP2, NOTCH2, RUNX2, SQSTM1, TNFRSF11A, WNK1, ZMPSTE24
Test Details Pricing

Panel: Strand Skeletal Disorders Test

Disorder Category: Osteolysis related disorders

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