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Hereditary Myotonia / Congenital Myotonia

Test number: 8307H

CM

Breed
New Forest Pony .
The Disease
Congenital moytonia is an inherited neuromuscular disorder characterized by the slow relaxation of muscles after voluntary contraction or electrical stimulation. It is caused by a missense mutation in the CLCN1 gene which is responsible for the function of chloride ion channels in the skeletal muscle. Affected foals appear normal at birth. The first symptoms are recurrent episodes of recumbency and difficulty rising to its feet as a result of muscle stiffness. They occur during the first weeks of age and usually increase in the following months. Picking up the limbs is not possible because of the muscle rigidity. The eyebulb may be retracted due to the myotonia.
Sample Requirements
Hair Sample from mane with roots (approx 30 hairs) , Buccal Swabs or 1 ml whole blood in EDTA tube.

How to obtain a viable hair sample

Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.

Hair sample from mane with roots (approx 30 hairs) , Buccal swabs or 1 ml whole blood in EDTA tube.

How to obtain a viable hair sample

Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.

.
Turnaround
1 - 2 weeks
Price
£ 48.00 (including VAT)

To order:

  • Download Order Form from this link pdf

  • Complete the order form and send it together with your samples to the following address:

    Laboklin (UK),   125 Northenden Road, Manchester, M33 3HF

See Also:
HYPP (Hypercalaemic Periodic Paralysis)  
IMM and MYH1 Myopathy ( MYHM )  
OLWS / LWO ( Lethal White Foal Syndrome-Frame Overo)  
H-JEB (Herlitz Junctional epidermolysis bullosa)  
HERDA (Hereditary Equine Regional Dermal Asthenia)  
PSSM (Polysaccharid Storage Myopathy)  
Cerebellar Abiotrophy (CA)  
Lavender Foal Syndrome (LFS) / Coat Colour Dilution Lethal (CCDL)  
Glycogen Branching Enzyme Deficiency (GBED)  
Equine Malignant Hypethermia (EMH)  
Warmblood Fragile Foal Syndrome (WFFS)  
Special Offer 1: PSSM + HERDA + GBED + HYPP (Save £54)  
Special Offer 2: PSSM + HERDA + GBED + HYPP + OLWS (Save £90.00)  
Special Offer 3: CA + LFS + SCID (Save £12)  
Connemara Pony Hoof Wall Separation Disease  
5 Panel test: PSSM + HERDA + GBED + HYPP + EMH (Save £90.00)  
FOAL IMMUNODEFICIENCY SYNDROME (FIS)  
Special Offer Quarab: PSSM + HERDA + GBED + CA + SCID  
Naked Foal Syndrome ( NFS )  
Ocular Squamous Cell Carcinoma (SCC)  
SCID (Severe Combined Immunodeficiency)  

 
 
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LABOKLIN GmbH & Co. KG
ISO / DIN 17025 Accredited Laboratory
© 2007 Laboklin (UK)
125 Northenden Road, Manchester, M33 3HF
Tel. 0161 282 3066