Congenital Nystagmus, X-linked

X-linked congenital nystagmus is an X-linked hereditary form of congenital idiopathic nystagmus (CIN). The onset of nystagmus is during the infancy (less than 6 month of age). Congenital nystagmus typically presents with conjugate, horizontal oscillations of the eyes. Rarely the nystagmus is vertical or monocular. These oscillations usually occur during primary or eccentric gaze, often with an anomalous of the head posture head. Other features include strabismus, refractive error, and head movements. Other disorders to be differentiated from CIN are: a. Acquired nystagmus: Nystagmus can be acquired due to inner ear disorders such as labyrinthitis or Meniere's disease, toxic causes such as drugs, medication, or alcohol intoxication, head injury, and stroke or any disease of the brain b. Other inherited disorders associated with nystagmus: Albinism, achromatopsia, X-linked congenital stationary blindness, Leber congenital amaurosis, optic disc atrophy, optic nerve hypoplasia, and aniridia.

Tests Available

Forms and Documents

Test Details

FRMD7
  • Confirmation of a clinical diagnosis
  • Differentiating FRMD7-related CIN from other genetic and non-genetic forms of nystagmus
  • Development of an appropriate management plan
  • Carrier testing
  • Capillary Sequencing

Ordering

432
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 379.51 Congenital nystagmus
  • 379.5 Nystagmus and other irregular eye movements
* For price inquiries please email zebras@genedx.com

References

  1. Tarpey et al., (2006) Nat Genet 38:1242-1244
  2. Thomas MG et al., (2009) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle Feb 12
  3. Self J et al., (2007) Ophthalmic Genet 28(4):187-91
  4. Mellot et al., (1999) Arch Ophthalmol 117:1630-33
  5. Shiels et al., (2007) Molec Vis 13:2233-2241

Forms and Documents

Test Details

Molecular confirmation of a clinical diagnosis
To assist with decisions about treatment and management of individuals with nystagmus
Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies

  • Next-Gen Sequencing

Ordering

J894
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81400x1, 81401x1, 81403x1, 81404x5, 81406x2, 81407x1, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References