Test name FAMILIAL EPISODIC HYPOKALEAMIC

Transcrição

12/14/2015
https://animaltracks.animalsdna.com/TestReport.aspx?id=30438&action=Print
Test name
FAMILIAL EPISODIC HYPOKALEAMIC POLYOMYOPATHY
Swab Number
6986
Animal Number
15281
Owner/Breeder
Name
Bruno Nogueira
Address
Rua Manaus, 300 ‐ 2 andar ‐ Sta. Efigenia
Belo Horizonte
BRAZIL
Minas Gerais, 30150350.
Animal Details
Name
SK* Top Quality of Jurrasic Park
Sex
Male
Breed
Maine Coon
Registration No. ID
Microchip No.
941000015520485
Specimen Type
BUCCAL CELLS
Date Received
20/02/2014 12:46:13 AM
Test Result
Normal
Interpretation
This test detects a mutation associated with Familial Episodic Hypokalaemic Polymyopathy (Burmese hypokalaemia)
A normal result means that the above mutation was not detected.
Date of report: 14 December 2015
Authorised by:
NB: There may be rare instances where the animals colour or pattern in DNA sequence that has not previously been reported. https://animaltracks.animalsdna.com/TestReport.aspx?id=30438&action=Print
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Test name
HYPERTROPHIC CARDIOMYOPATHY (HCM) ‐ MAINE COON (A31P)
Swab Number
6986
Animal Number
15281
Owner/Breeder
Name
Bruno Nogueira
Address
Belo Horizonte
BRAZIL
Animal Details
Name
Sex
Male
Breed
Maine Coon
Registration No. ID
Microchip No.
941000015520485
Specimen Type
BUCCAL CELLS
Date Received
20/02/2014 12:46:13 AM
Test Result
Clear
Interpretation
The specific HCM mutation is not present.
This test identifies the most common mutation currently known to cause HCM in Maine Coon cats. It identifies a
mutation in the MYBPC3 gene as described by Meurs et al.
If the mutation is not present, it does not mean that the cat will never develop HCM, as other causes are possible. A
"Clear" result means that the cat's DNA does not contain this specific mutation.
In breeds other than Maine Coon, a positive result indicates that the cat has the specific mutation. Reference: Meurs et al. Human Molecular Genetics 2005, 14, 3587
Authorised by:
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Test name
MUCOPOLYSACCHARIDOSIS (MPS)
Swab Number
6986
Animal Number
15281
Owner/Breeder
Name
Bruno Nogueira
Address
Belo Horizonte
BRAZIL
Animal Details
Name
Sex
Male
Breed
Maine Coon
Registration No. ID
Microchip No.
941000015520485
Specimen Type
BUCCAL CELLS
Date Received
20/02/2014 12:46:13 AM
Test Result
NORMAL/NEGATIVE/CLEAR
Interpretation
Authorised by:
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Test name
NIEMANN‐ PICK DISEASE
Swab Number
6986
Animal Number
15281
Owner/Breeder
Name
Bruno Nogueira
Address
Belo Horizonte
BRAZIL
Animal Details
Name
Sex
Male
Breed
Maine Coon
Registration No. ID
Microchip No.
941000015520485
Specimen Type
BUCCAL CELLS
Date Received
20/02/2014 12:46:13 AM
Test Result
NORMAL/CLEAR/NEGATIVE
Interpretation
Authorised by:
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Test name
POLYCYSTIC KIDNEY DISEASE (PKD1)
Swab Number
6986
Animal Number
15281
Owner/Breeder
Name
Bruno Nogueira
Address
Belo Horizonte
BRAZIL
Animal Details
Name
Sex
Male
Breed
Maine Coon
Registration No. ID
Microchip No.
941000015520485
Specimen Type
BUCCAL CELLS
Date Received
20/02/2014 12:46:13 AM
Test Result
CLEAR/NEGATIVE/NORMAL
Interpretation
This cat does NOT have the PKD1 gene mutation.
This test identifies a DNA change in the PKD1 gene (10063) as reported by Lyons et al; J Am Soc Nephrol 2004 15 2548‐
55. PLEASE NOTE: PKD is inherited as an autosomal dominant disease.
Authorised by:
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Test name
PROGRESSIVE RETINAL ATROPHY (PRA) ‐ CEP 290 (PRA‐rdc)
Swab Number
6986
Animal Number
15281
Owner/Breeder
Name
Bruno Nogueira
Address
Belo Horizonte
BRAZIL
Animal Details
Name
Sex
Male
Breed
Maine Coon
Registration No. ID
Microchip No.
941000015520485
Specimen Type
BUCCAL CELLS
Date Received
20/02/2014 12:46:13 AM
Test Result
Interpretation
The CEP290 (PRA‐rdAC) mutation was not found.
Authorised by:
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Test name
PROGRESSIVE RETINAL ATROPHY (PRA) ‐ CRX (PRA‐rdy)
Swab Number
6986
Animal Number
15281
Owner/Breeder
Name
Bruno Nogueira
Address
Belo Horizonte
BRAZIL
Animal Details
Name
Sex
Male
Breed
Maine Coon
Registration No. ID
Microchip No.
941000015520485
Specimen Type
BUCCAL CELLS
Date Received
20/02/2014 12:46:13 AM
Test Result
Interpretation
This cat has tested as NORMAL (no mutation found) for the CRX (PRA‐rdy) gene.
Authorised by:
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Test name
PYRUVATE KINASE DEFICIENCY (PYKDY)
Swab Number
6986
Animal Number
15281
Owner/Breeder
Name
Bruno Nogueira
Address
Belo Horizonte
BRAZIL
Animal Details
Name
Sex
Male
Breed
Maine Coon
Registration No. ID
Microchip No.
941000015520485
Specimen Type
BUCCAL CELLS
Date Received
20/02/2014 12:46:13 AM
Test Result
Normal
Interpretation
This test detects a mutation known to result in the absence of the Pyruvate Kinase enzyme. Lack of this enzyme results
in Pyruvate kinase deficiency. Normal means that the mutation was not detected and therefore this cat will not be affected by Pyruvate Kinase
deficiency
Authorised by:
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Test name
SPINAL MUSCULAR ATROPHY (SMA) ‐ MAINE COON
Swab Number
6986
Animal Number
15281
Owner/Breeder
Name
Bruno Nogueira
Address
Belo Horizonte
BRAZIL
Animal Details
Name
Sex
Male
Breed
Maine Coon
Registration No. ID
Microchip No.
941000015520485
Specimen Type
BUCCAL CELLS
Date Received
20/02/2014 12:46:13 AM
Test Result
SMA Deletion: Not Found
Interpretation
SMA in Maine Coons is an autosomal recessive disorder caused by a large deletion on chromosome A1.
Other causes of SMA are not detected by this assay.
Reference: Fyfe at al. Genome Research 2006:16;1084
Authorised by:
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Test name FAMILIAL EPISODIC HYPOKALEAMIC

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