CKCSID Dry eye curly coat syndrome

64,90

Specific to the Cavalier King Charles Spaniel

Also known as

  • Congenital KeratoConjuctivitis Sicca
  • Ichthyosiform Dermatosis
  • CCDE
  • CCS

ٹیسٹ کی ٹرانسمیشن : 3-6 days or Express 3 days
نسلوں : Autre Race, Cavalier King Charles, Inconnue
نمونے : Buccal swab, or Blood in EDTA tube, or Blood in dry tube

واضح
ایس ckcsid-dry-eye-curly-coat-syndrome زمرہ:
N/N : Normal, no copies of the CKCSID mutation. N/CKCSID : Normal, one copy of the CKCSID mutation. CKCSID/CKCSID : 2 copies of the CKCSID mutation, the dog may develop this disease.

The symptoms of CKCSID Dry eye curly coat syndrome

The CKCSID is a genetic disease that particularly affects the skin, nails and eyes in the cavalier king charles spaniel. The affected dogs have rough and curly coat and the eyes seems dry. The abdominal part of the belly becomes hyperpigmented and keratinized in adulthood. At the level of the teeth in the affected adult dogs, we can observed an intense formation of tartar associated with gingivitis which leads sometimes to the obligatory tearing of several teeth.

This genetic disease has been described for the first time in 2006.

Type of sample

Here is the list of the different types of samples that are accepted for this test :
  • بکی لعاب
  • Blood in EDTA tube
  • Blood in dry tube

Available breeds for the test : CKCSID Dry eye curly coat syndrome


The following breeds are recognized :
  • Autre Race
  • Cavalier King Charles
  • Inconnue

Understanding results of the test : CKCSID Dry eye curly coat syndrome


N/N : Normal, no copies of the CKCSID mutation. N/CKCSID : Normal, one copy of the CKCSID mutation. CKCSID/CKCSID : 2 copies of the CKCSID mutation, the dog may develop this disease.
Test name : CKCSID Dry eye curly coat syndrome
Gene Mutation : FAM83H c.1016delC
Heredity : autosomal recessive (more information)
Test resultCKCSID Dry eye curly coat syndrome status (FAM83H c.1016delC)Health status
N/NNo copy of the CKCSID mutationAnimal is normal (clear)
N/CKCSID1 copy of the CKCSID mutationAnimal is normal (clear)
CKCSID/CKCSID2 copies of the CKCSID mutationAnimal is, will or could be affected

Cross table of the test : CKCSID Dry eye curly coat syndrome


Mother N/NMother N/CKCSIDMother CKCSID/CKCSID
Father N/N100% N/N50% N/N
50% N/CKCSID
100% N/CKCSID
Father N/CKCSID50% N/N
50% N/CKCSID
25% N/N
50% N/CKCSID
25% CKCSID/CKCSID
50% N/CKCSID
50% CKCSID/CKCSID
Father CKCSID/CKCSID100% N/CKCSID50% N/CKCSID
50% CKCSID/CKCSID
100% CKCSID/CKCSID

Certificate example for the test : CKCSID Dry eye curly coat syndrome

Click on the example certificate below to open it.

سرٹیفیکیٹ

References

Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, et al. (2012) Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genet 8(1): e1002462. doi:10.1371/journal.pgen.1002462

Barnett KC (2006) Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel. J Small Anim Pract 47:524-528.

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