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Madra Siondróm Bernard-Soulier (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.

Giorrúchán: BSS-C
Claochlú anailísithe : GP9 c.127_*2052del
Oidhreacht : Cúlaitheach Uathsomal

Acrainm

BSS-C

Minicíocht breathnaithe

Annamh

déine cliniciúil

dian

Aicmiú cliniciúil

Galair Haemaiteolaíocha

Claochlú anailísithe

GP9 c.127_*2052del

Modh oidhreachta

Cúlaitheach Uathsomal

Achoimre tástála:

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.

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Roghnaigh an pacáiste is fearr a oireann do straitéis póraithe nó sláinte d'ainmhithe.

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.

Comharthaí agus Comharthaí Cliniciúla

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.

Roghanna Bainistíochta agus Cóireála

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.

Conclúid

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.


Pór aitheanta don tástáil : Siondróm Bernard-Soulier (BSS-C)

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

🧬 Interpretation of genotypes BSS-C

Géinitíopa
Stádas
🟡 N/N
Neamh-iompróir - Gan Riosca
🟡 N/BSS-C
Iompróir - Gan Riosca
❌ BSS-C/BSS-C
Isteach - I mBaol

Ceisteanna Coitianta: an léirmhíniú a thuiscint

Cad is brí le “Soiléir”?

Ní iompraíonn an t-ainmhí an sóchán. Ní dhéanfaidh sé an galar a fhorbairt agus ní chuirfidh sé ar aghaidh é.

An bhfuil “Iompróir” dáiríre?

Tá an t-ainmhí sláintiúil go ginearálta ach is féidir leis an sóchán a tharchur chuig a sliocht.

Cad a tharlaíonn má “Cuirtear isteach” ar ainmhí?

Tá dhá chóip mutated ar iompar aige. Táthar ag súil le comharthaí cliniciúla ag brath ar an galar. Níor chóir é a phóraítear.

Cén fáth a bhfuil difríochtaí idir fireannach/baineann?

Tá roinnt galair ceangailte le gnéas, mar sin athraíonn a léiriú ag brath ar an gnéas ainmhí.



Sliocht a thuar

N/N (neamh-iomproir)
N/BSS-C (Iompróir)
BSS-C/BSS-C (Difear)

Ceisteanna Coitianta maidir le Tástáil DNA

Cad a bhraitheann an tástáil DNA seo?

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

Cén fáth tástáil a dhéanamh ar ainmhí pórúcháin?

Cuidíonn tástáil DNA le póraitheoirí cúplála níos sábháilte a phleanáil agus an baol go dtarchuirfear an sóchán chuig an sliocht a laghdú.

Cad é modh oidhreachta na tástála seo?

Is é Autosomal Recessive an modh oidhreachta a thuairiscítear don tástáil seo.

Cén sóchán a ndéantar anailís air sa triail seo?

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

An gá go gcuirfí isteach ar ainmhí iompróra?

Ní gá. Braitheann an léirmhíniú ar an bpatrún oidhreachta agus ar an géinitíopa dá bharr.


Tagairtí

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.

Níos mó ná 1400 marcóir géiniteach thar ilspeicis

Déan iniúchadh ar bhunachar sonraí fairsing de bhreis is 1,400 marcóir géiniteach bailíochtaithe a chlúdaíonn madraí, cait agus capaill. Bunús cumhachtach le haghaidh diagnóisic tréidliachta agus cinntí póraithe freagracha.

Bunachar Sonraí Marcála Géiniteacha Iomlán

Faigh rochtain ar bhunachar sonraí de mharcóirí géiniteacha cuimsitheach agus sainchoimeádta, lena n-áirítear comharthaí cliniciúla, cineálacha cur chuige diagnóiseacha, roghanna teiripeacha, sonraí sócháin, tagairtí eolaíocha, pórtha aitheanta, agus tréithe sócháin.

Uirlisí Géiniteacha Casta le haghaidh Cinntí maidir le Pórú Níos Cliste

Cinntí eolasacha a dhéanamh le huirlisí géiniteacha cumhachtacha atá deartha chun riosca galair a mheas, oidhreacht dath an chóta a thuar, comhéifeachtaí ionphóraithe a ríomh, tuismíocht a fhíorú, agus torthaí sliocht a shamhaltú.

Anailís Ardchaighdeáin le Slánúchán Mear

Tairbhe a bhaint as ardanailís saotharlainne a sheachadann torthaí géiniteacha iontaofa agus beachta laistigh de 1 go 2 sheachtain. Cinntíonn ár sreafaí oibre sruthlínithe agus ár bprótacail bhailíochtaithe éifeachtúlacht gan cur isteach ar dhéine eolaíoch.

Fiafraigh díom rud ar bith… ➤
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Siondróm Bernard-Soulier (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!
Siondróm Bernard-Soulier (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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