individual is crucial because it provides traces to a genetic diagnosis. Laboratory tests, particularly genetic testing, are performed to diagnose genetic disorders. Some of the types of genetic testing are molecular, biochemical and chromosomal. Other laboratory tests performed may measure levels of certain substances in urine and blood that can also help suggest a diagnosis. Related disorders Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Thus, Alstrom syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Meckel–Gruber syndrome and some forms of retinal degeneration. Diagnostic criteria Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication. Birth – 2 years: Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria. Major criteria are: ALMS1 mutation in 1 allele and/or family history of Alström syndrome Vision pathology (nystagmus, photophobia). Minor criteria are: Obesity Dilated cardiomyopathy with congestive heart failure. Other variable supportive evidence: Recurrent pulmonary infections, normal digits, delayed developmental milestones. At 3–14 years of age: 2 major criteria or 1 major and 3 minor criteria. Major criteria are: ALMS1 mutation in 1 allele and/or family history of Alström syndrome, Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by ERG. Minor criteria: Obesity and/or insulin resistance and/or Type 2 Diabetes History of dilated cardiomyopathy with congestive heart failure Hearing loss Liver dysfunction Kidney failure Advanced bone age Variable supportive evidence: Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency. Presentation 15 years – adulthood: 2 major and 2 minor criteria or 1 major and 4 minor criteria. Major criteria are: ALMS1 mutation in 1 allele and/or family history of Alström syndrome. Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG). Minor criteria: Obesity and/or insulin resistance and/or Type 2 Diabetes History of dilated cardiomyopathy with congestive heart failure. Hearing loss Hepatic dysfunction Renal failure Short stature Males: hypogonadism, Females: irregular menses and/or hyperandrogenism Other supportive features: Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide