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Feline Disease Detection


Comprehensive Detection for 40+ Diseases

Optimal Selection™ is a unique multipurpose test. Instead of series of one-off tests for diseases and individual mutations, Optimal Selection delivers a comprehensive set of results for more than 40 genetic diseases. However, because not all gene variants cause disease in each breed, and most disease variants have not been investigated in all breeds, detailed information about the test results are provided in three categories:

  1. Disorders known to be relevant to the tested breed
  2. New potential disorders
  3. Other disorders, usually ones not found to be significant in the breed

As genetic samples are collected and new potential disorders become known, they are listed only after certain criteria have been met to suggest they may be of significance in the breed:

  • The result is verified by a secondary technology
  • Clinical confirmation is obtained

Once these criteria have been met, the condition is listed as a new potential disorder in the breed and additional follow-up and analysis is performed. In this way, Optimal Selection users—through their sample submissions—help with ongoing research, and help participate in early surveillance for disorders that may be spreading in the population.

Following is a list of diseases that are covered by Optimal Selection. Note that not every disease is applicable to every breed. Please be aware that, due to differences in laws by country, this test list applies to US customers only. For international inquiries, please contact us for more information.

Feline Disease Screenings

Factor XII Deficiency
Hemophilia B; F9 mutation: c.1014C>T
Hemophilia B; F9 mutation: c.247G>A
Pyruvate Kinase (PK) Deficiency
Congenital Adrenal Hyperplasia
Bengal Progressive Retinal Atrophy (PRA-b)
Progressive Retinal Atrophy - Retinal Dystrophy (rdAc)
Hypertrophic Cardiomyopathy (variant originally found in Maine Coon)
Hypertrophic Cardiomyopathy (variant originally found in Ragdoll)
Immune System
Autoimmune Lymphoproliferative Syndrome
Congenital Hypotrichosis with Short Life Expectancy
Kidneys / Urinary
Cystinuria; SCL3A1 mutation
Cystinuria; SCL7A9 mutation: c.1175C>T
Cystinuria; SCL7A9 mutation: c.706G>A
Cystinuria; SCL7A9 mutation: c.881A>T
Polycystic Kidney Disease
Acute Intermittent Porphyria; HMBS mutation: c.189dupT
Acute Intermittent Porphyria; HMBS mutation: c.844delGAG
Acute Intermittent Porphyria; HMBS mutation c.107_110delACAG
Acute Intermittent Porphyria; HMBS mutation c.826-1G>A
Chylomicronemia, Lipoprotein Lipase Deficiency
Congenital Erythropoietic Porphyria; UROS mutation: c.331G>A
Glycogen Storage Disease Type IV
Mucopolysaccharidosis Type I (MPS I)
Mucopolysaccharidosis Type VI (MPS VI), Typical Form
Mucopolysaccharidosis Type VII; GUSB mutation: c.1074G>A
Mucopolysaccharidosis VII; GUSB mutation: c.C1424T
Vitamin D-Dependent Rickets (VDDR-1A); CYP27B mutation: c.G637T 
Muscles & Skeleton
Burmese Head Defect; ALX1 mutation
Congenital Myasthenic Syndrome (CMS)
Myotonia Congenita
Periodic Hypokalemic Polymyopathy, Burmese Hypokalemia, or Familial Episodic Hypokalaemic Polymyopathy
Spinal Muscular Atrophy (SMA)/Spinal Muscular Dystrophy
Osteochondrodysplasia and Folded Ears; TRPV4 mutation
Nervous System
Feline GM1 Gangliosidosis
GM2 Gangliosidosis, Domestic Shorthair HEXB mutation: c.1467_1491inv
GM2 Gangliosidosis, Japanese Domestic HEXB mutation: c.667C>T
GM2 Gangliosidosis; Domestic Shorthair GM2A mutation
Niemann-Pick C1, NPC Disease, Sphingomyelinosis; NPC1 mutation: c.2865G>C
Niemann-Pick C2, NPC Disease, Sphingomyelinosis; NPC2 Mutation 
Blood-Brain Barrier Dysfunction, Multi-Drug Resistance 1 (MDR1/ABCB1)