A genetic disorder is a disease caused due to changes in the DNA sequences of individual. The disorder can be caused by a mutation or a change in one nucleotide of the sequence (Monogenic disorder) or by mutations in multiple genes (multi-factorial inherited disorder).
Validated
Assay Code
ASD-241
Description
Dilated Cardiomyopathy 1 & 2 are caused by mutations in two independent genes that have been associated with dilated cardiomyopathy. Specifically, a deletion of 16 DNA bases in the pyruvate dehydrogenase kinase 4 (PDK4) gene, known as DCM1, results in a gene product suspected to cause cardiac issues. The DCM1 variant is predicted to alter the mitochondrial PDK4 protein assembly pattern because it eliminates a splice site. Since mitochondria are one of the major sites of energy generation within a cell, the resulting negative impact of reduced energy generation within cardiac tissue is hypothesized to result in cardiomyopathy. The second associated variant is a missense mutation in the Titin gene (TTN) gene known as DCM2. The DCM2 variant changes an amino acid conserved across mammals, is predicted to alter one of the gene products (protein) immunoglobulin – like (Ig) domains. The Ig domains function like springs within a muscle fiber, and the variant is predicted to reduce the elastic nature of the protein, negatively impacting cardiac function.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Equine cerebellar abiotrophy is characterized by neurological defects in equine foals including head tremors and ataxia. The disease is caused due to mutation in MUTYH gene and leads to an inherited neurological condition found primarily in Arabian horses. Affected horses may show exaggerated action of the forelegs, a wide-based stance, and be unable to rise from a reclining position. They tend to startle easily and often fall due to ataxia. Some foals show very severe signs, including the exaggerated gaits and dramatic lack of balance. Others have little more than a head tremor, which may only manifest itself during goal-directed movement.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Erythrocyte Pyruvate Kinase Deficiency is hemolytic anemia in cats and caused due to insufficient activity of this regulatory enzyme which results in instability and loss of red blood cells. Symptoms of this anemia can include severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement. This condition is inherited as an autosomal recessive caused by mutation in Felis catus pyruvate kinase isozyme R (PKLR) gene.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Hyperkalemic Periodic Paralysis (HYPP) is caused by a missense mutation in the SCN4A gene that produces an altered alpha chain of the skeletal muscle sodium channel in horses. Specifically, the change in the DNA causes a substitution from phenylalanine to leucine of the protein product (sodium channel).
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Lavender foal syndrome is a neurological dysfunction in newborn equine foals. It is also known as coat color dilution lethal in Arabian horses. It is a fatal autosomal recessive condition caused by a mutation in the MYO5A gene that affects the function of melanocytes and neurons in foals and results in both coat color dilution and neurological defects.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Polycystic Kidney Disease is caused by a mutation in the polycystic kidney disease 1 (PKD1) gene. The disease is lethal in cats due to renal failure. Early onset, bilateral presentation (both kidneys), and multiple cysts are all traits of PKD1. The kidney cysts present early, often before 12 months of age. Renal failure, however, usually occurs at a later age.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Progressive Retinal Atrophy (Bengal) is a disease that leads to blindness in cats caused by to mutation in the KIF3B gene. Bengal progressive retinal atrophy is characterized by progressive blindness. The loss of vision begins around 7 weeks of age and slowly progresses until the cat has very compromised vision by approximately 2 years of age.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Progressive Retinal Atrophy (Persian) is retinal atrophy in cats caused due to mutation in the Aryl-hydrocarbon interacting protein-Like 1 (AIPL1) gene resulting in a stop codon. This mutation is found mainly in Persian cats. Persian progressive retinal atrophy is characterized by progressive blindness. Cats with one normal and one mutated gene (carriers) have Retinal Pigment Epithelium changes but maintain normal vision without photoreceptor loss. Mating between two carrier cats is expected to produce 25% blind kittens.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
DNA-protein kinase catalytic subunit (DNA-PKcs) gene in equine. This mutation causes a frame-shift mutation and premature termination and results in an inactive DNA-PKcs protein. Severe combined immunodeficiency (SCID) equine foals are normal at birth but soon after present signs such as elevated temperature, respiratory stress, and diarrhea, typically between 2-8 weeks of age. Affected foals do not survive past the first six months of life. Both male and female foals are equally affected.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
A genetic disorder is a disease caused due to changes in the DNA sequences of individual. The disorder can be caused by a mutation or a change in one nucleotide of the sequence (Monogenic disorder) or by mutations in multiple genes (multi-factorial inherited disorder).
Validated
Assay Code
ASD-241
Description
Dilated Cardiomyopathy 1 & 2 are caused by mutations in two independent genes that have been associated with dilated cardiomyopathy. Specifically, a deletion of 16 DNA bases in the pyruvate dehydrogenase kinase 4 (PDK4) gene, known as DCM1, results in a gene product suspected to cause cardiac issues. The DCM1 variant is predicted to alter the mitochondrial PDK4 protein assembly pattern because it eliminates a splice site. Since mitochondria are one of the major sites of energy generation within a cell, the resulting negative impact of reduced energy generation within cardiac tissue is hypothesized to result in cardiomyopathy. The second associated variant is a missense mutation in the Titin gene (TTN) gene known as DCM2. The DCM2 variant changes an amino acid conserved across mammals, is predicted to alter one of the gene products (protein) immunoglobulin – like (Ig) domains. The Ig domains function like springs within a muscle fiber, and the variant is predicted to reduce the elastic nature of the protein, negatively impacting cardiac function.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Equine cerebellar abiotrophy is characterized by neurological defects in equine foals including head tremors and ataxia. The disease is caused due to mutation in MUTYH gene and leads to an inherited neurological condition found primarily in Arabian horses. Affected horses may show exaggerated action of the forelegs, a wide-based stance, and be unable to rise from a reclining position. They tend to startle easily and often fall due to ataxia. Some foals show very severe signs, including the exaggerated gaits and dramatic lack of balance. Others have little more than a head tremor, which may only manifest itself during goal-directed movement.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Erythrocyte Pyruvate Kinase Deficiency is hemolytic anemia in cats and caused due to insufficient activity of this regulatory enzyme which results in instability and loss of red blood cells. Symptoms of this anemia can include severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement. This condition is inherited as an autosomal recessive caused by mutation in Felis catus pyruvate kinase isozyme R (PKLR) gene.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Hyperkalemic Periodic Paralysis (HYPP) is caused by a missense mutation in the SCN4A gene that produces an altered alpha chain of the skeletal muscle sodium channel in horses. Specifically, the change in the DNA causes a substitution from phenylalanine to leucine of the protein product (sodium channel).
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Lavender foal syndrome is a neurological dysfunction in newborn equine foals. It is also known as coat color dilution lethal in Arabian horses. It is a fatal autosomal recessive condition caused by a mutation in the MYO5A gene that affects the function of melanocytes and neurons in foals and results in both coat color dilution and neurological defects.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Polycystic Kidney Disease is caused by a mutation in the polycystic kidney disease 1 (PKD1) gene. The disease is lethal in cats due to renal failure. Early onset, bilateral presentation (both kidneys), and multiple cysts are all traits of PKD1. The kidney cysts present early, often before 12 months of age. Renal failure, however, usually occurs at a later age.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Progressive Retinal Atrophy (Bengal) is a disease that leads to blindness in cats caused by to mutation in the KIF3B gene. Bengal progressive retinal atrophy is characterized by progressive blindness. The loss of vision begins around 7 weeks of age and slowly progresses until the cat has very compromised vision by approximately 2 years of age.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Progressive Retinal Atrophy (Persian) is retinal atrophy in cats caused due to mutation in the Aryl-hydrocarbon interacting protein-Like 1 (AIPL1) gene resulting in a stop codon. This mutation is found mainly in Persian cats. Persian progressive retinal atrophy is characterized by progressive blindness. Cats with one normal and one mutated gene (carriers) have Retinal Pigment Epithelium changes but maintain normal vision without photoreceptor loss. Mating between two carrier cats is expected to produce 25% blind kittens.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
DNA-protein kinase catalytic subunit (DNA-PKcs) gene in equine. This mutation causes a frame-shift mutation and premature termination and results in an inactive DNA-PKcs protein. Severe combined immunodeficiency (SCID) equine foals are normal at birth but soon after present signs such as elevated temperature, respiratory stress, and diarrhea, typically between 2-8 weeks of age. Affected foals do not survive past the first six months of life. Both male and female foals are equally affected.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed the next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
