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Dog DNA testing illustration

Spinal Dysraphism (SD) / Neural Tube Defects (NTD)

Code: H377

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Spinal Dysraphism (SD), also known as Myelodysplasia, is a hereditary neurological disorder present at birth due to an error in the development of an embryo.

General information

Spinal Dysraphism (SD), also known as Myelodysplasia, is a hereditary neurological disorder present at birth due to an error in the development of an embryo. The disease is part of a group disorders known as Neural Tube Defects (NTDs). This mutation is found in the Weimaraner breed and caused by a mutation in the NKX2-8 gene.

Specifications

Breeds

Weimaraner
Gene

NKX2-8
Chromosome

8
Mutation

c.449delinsTT
Organ

Nervous System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

SD; Myelodysplasia

Clinical features

Affected dogs have a defective spinal canal which are causing neurological abnormalities. Dogs may have abnormal gaits that includes simultaneous movement of the hind legs, referred to as ‘Bunny Hopping’. Other clinical signs are weakness and lack of coordination in the rear, wide-based stance, and abnormal reflexes in the hind limbs.

References

Pubmed ID: 23874236

Year published: 2013

Omia ID: 938

Omia variant ID:

Turnaround information

  • 15 working days