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Ntja Bernard-Soulier Syndrome (BSS-C)


Discover the importance of the DNA test for Bernard-Soulier Syndrome (BSS-C) in dogs, a rare genetic disorder affecting platelet function and blood clotting. Early detection through this specialized DNA test helps breeders and veterinarians identify carriers and affected dogs, preventing the spread of BSS-C in breeding lines. By understanding your dog's genetic status, you can make informed decisions to ensure healthier litters and improve overall canine health. Our accurate and reliable Bernard-Soulier Syndrome DNA test offers peace of mind for responsible dog owners. Protect your dog's future with advanced genetic screening today. Stay proactive in managing hereditary conditions with our expert testing services.

Kgutsufatso : BSS-C
Phetoho e hlahlobiloeng : GP9 c.127_*2052del
Lefa : Autosomal Recessive

Kgutsufatso

BSS-C

Khafetsa e shebiloeng

Rare

Bohloko ba bongaka

Severe

Sehlopha sa bongaka

Mafu a Haematological

Phetoho e hlahlobiloeng

GP9 c.127_*2052del

Mokhoa oa lefa

Autosomal Recessive

Kakaretso ea teko:

Bernard-Soulier Syndrome (BSS-C) in dogs is a rare inherited bleeding disorder caused by a genetic mutation affecting platelet function. DNA testing can identify carriers and affected dogs by detecting mutations in the GP1b gene complex. Early diagnosis through genetic screening helps breeders avoid producing affected puppies. This test is crucial for managing the health of at-risk breeds. Understanding BSS-C at the DNA level supports better treatment and prevention strategies.

E fumaneha ho tsoa paketeng: Basic

Teko ena ea DNA e kenyelelitsoe ho qala ka pakete ea rona Basic - hape ke karolo ea lipakete Basic, Standard, Advanced, Complete.

Sheba Liphutheloana tsa Tlhahlobo ea DNA →
Khetha sephutheloana se lumellanang hantle le leano la hau la ho ikatisa kapa bophelo bo botle ba liphoofolo tsa hau.

Understanding Bernard-Soulier Syndrome (BSS-C) in Dogs

Bernard-Soulier Syndrome (BSS-C) is a rare genetic disorder that affects blood clotting in dogs. This condition is characterized by a deficiency in the glycoprotein complex known as GPIb-IX-V, which plays a crucial role in platelet function and adhesion. As a result, dogs with BSS-C experience abnormal bleeding due to their platelets' inability to effectively bind to blood vessel walls, leading to a compromised hemostatic response.

Genetic Basis of BSS-C

BSS-C is inherited in an autosomal recessive manner, meaning that both copies of the gene involved must be mutated for the disease to manifest. The specific genetic mutations associated with BSS-C can be identified through DNA testing, allowing for the detection of carriers and affected individuals. Understanding the genetic basis of this condition is essential for breeding programs aimed at reducing the prevalence of BSS-C in canine populations.

Matšoao a Bongaka le Matšoao

Dogs affected by BSS-C may display various clinical signs that are primarily related to bleeding disorders. Common symptoms include prolonged bleeding from cuts or surgical sites, spontaneous nosebleeds, and the presence of bruises or petechiae (small red or purple spots on the skin). In more severe cases, internal bleeding can occur, which may lead to serious health complications. Early recognition and management of these symptoms are crucial for the welfare of affected dogs.

Diagnosis of BSS-C

Diagnosis of Bernard-Soulier Syndrome typically involves a combination of clinical evaluation and laboratory testing. A veterinarian may observe the clinical signs and recommend blood tests to assess platelet function and count. Furthermore, DNA testing can confirm the diagnosis by identifying mutations in the genes associated with the syndrome. This comprehensive approach ensures accurate identification of the condition and aids in appropriate management strategies.

Likhetho tsa Tsamaiso le Kalafo

While there is no cure for Bernard-Soulier Syndrome, management strategies can help mitigate the risks associated with the condition. Supportive care may include avoiding situations that could lead to injury or bleeding. In cases of significant bleeding, veterinary intervention may be necessary, which can include blood transfusions or other therapeutic measures to stabilize the dog’s condition. Regular veterinary check-ups and monitoring are essential for managing the health of affected dogs.

Qetello

Bernard-Soulier Syndrome is a significant genetic disorder that affects the hemostatic function in dogs, leading to a predisposition to bleeding. Through DNA testing, early diagnosis and management can be achieved, improving the quality of life for affected individuals. Awareness and understanding of this condition are vital for dog owners, breeders, and veterinarians alike.


Mefuta e tsebahalang bakeng sa tlhahlobo : Bernard-Soulier Syndrome (BSS-C)

  • American Cocker Spaniel
  • Black Cocker Spaniel
  • Cockapoo
  • English Cocker Spaniel
  • Welsh Cocker Spaniel
  • Working Cocker Spaniel

🧬 Interpretation of genotypes BSS-C

Genotype
Boemo
🟡 N/N
E seng mojari - Ha ho Kotsi
🟡 N/BSS-C
Mojari - Ha ho Kotsi
❌ BSS-C/BSS-C
E angoa - E Kotsing

FAQ: ho utloisisa tlhaloso

"Ho hlakile" ho bolela'ng?

Phoofolo ha e jare phetoho ea phetoho. E ke ke ea hlahisa lefu lena mme e ke ke ya e fetisa.

Na "Mojari" o tebile?

Che. Ka kakaretso phoofolo ena e phetse hantle empa e ka fetisetsa phetoho eo ho eona bana.

Ho thoe'ng haeba phoofolo e "Ameha"?

E na le likopi tse peli tse fetotsoeng. Matšoao a kliniki a lebelletsoe ho latela lefu lena. Ha ea lokela ho hōlisoa.

Hobaneng ho na le phapang lipakeng tsa monna / mosali?

Mafu a mang a amahanngoa le thobalano, kahoo polelo ea bona e fapana ho latela thobalano ea phoofolo.



Bolela Leloko

N/N (e-seng-mojari)
N/BSS-C (Mojari)
BSS-C/BSS-C (Ametsoe)

DNA Test FAQ

Teko ee ea DNA e sibolla eng?

This DNA test detects the mutation associated with Bernard-Soulier Syndrome (BSS-C) in order to identify clear, carrier, or at-risk animals.

Ke hobane'ng ha u lokela ho leka phoofolo e tsoalang?

Teko ea DNA e thusa bahlahisi ho rera ho nyalana ho sireletsehileng le ho fokotsa kotsi ea ho fetisetsa phetoho ho bana.

Mokhoa oa lefa oa teko ee ke ofe?

Mokhoa oa lefa o tlalehiloeng bakeng sa tlhahlobo ena ke Autosomal Recessive.

Ke phetoho efe e hlahlobiloeng tekong ee?

This test analyses the mutation GP9 c.127_*2052del.

Na phoofolo e jarang e hlile e amehile?

Eseng hakaalo. Tlhaloso e itšetlehile ka mokhoa oa lefa le genotype e hlahisoang.


Litšupiso

Gentilini Fabio, Turba Maria Elena, Giancola Fiorella, Chiocchetti Roberto, Bernardini Chiara, Dajbychova Markéta, Jagannathan Vidhya, Drögemüller Michaela, Drögemüller Cord. A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. PLoS One. 2019 Sep 4;14(9):e0220625. doi: 10.1371/journal.pone.0220625. eCollection 2019.

Ho feta 1400 matšoao a lefutso ho mefuta e mengata

Lekola pokello ea lintlha tse fetang 1,400 tse netefalitsoeng tsa lefutso tse koahelang lintja, likatse le lipere. Motheo o matla oa tlhahlobo ea bongaka ba liphoofolo le liqeto tse nang le boikarabelo ba ho ikatisa.

Setsi se Felletseng sa Liphatsa tsa lefutso

Fumana boitsebiso bo felletseng le bo hlophisitsoeng ka boitseanape ba matšoao a lefutso, ho kenyeletsoa matšoao a bophelo bo botle, mekhoa ea tlhahlobo, mekhoa ea kalafo, lintlha tsa phetoho, litšupiso tsa mahlale, mefuta e tsebahalang, le litšobotsi tsa phetoho.

Lisebelisoa tse tsoetseng pele tsa liphatsa tsa lefutso bakeng sa liqeto tse bohlale tsa ho tsalisa

Etsa liqeto tse nang le tsebo ka lisebelisoa tse matla tsa lefutso tse etselitsoeng ho lekola kotsi ea mafu, ho bolela esale pele ka lefa la 'mala oa seaparo, ho bala li-coefficients tsa inbreeding, ho netefatsa botsoali, le ho etsa mohlala oa liphello tsa bana.

Tlhahlobo ea Boemo bo Phahameng e nang le Phetoho e potlakileng

Ho rua molemo ho tsoa tlhahlobong e tsoetseng pele ea laboratori e fanang ka liphetho tse tšepahalang le tse nepahetseng tsa lefutso nakong ea beke e le 1 ho isa ho tse 2. Ts'ebetso ea rona e hlophisitsoeng hantle le liprothokholo tse netefalitsoeng li netefatsa ts'ebetso ntle le ho sekisetsa ho tsitsa ha mahlale.

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Bernard-Soulier Syndrome (BSS-C)
Bernard-Soulier Syndrome (BSS-C) - MyLabDNA
Discover accurate Bernard-Soulier Syndrome (BSS-C) DNA testing for dogs. Ensure your pet's health with reliable genetic screening today!
Bernard-Soulier Syndrome (BSS-C)
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Bernard-Soulier Syndrome (BSS-C) - MyLabDNA
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Discover accurate Bernard-Soulier Syndrome (BSS-C) DNA testing for dogs. Ensure your pet's health with reliable genetic screening today!
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