Genetic Services

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When Does A Child Need Genetic Services?

If one or more of the following applies to a child you know, he or she might need genetic services. Please contact your local genetic service provider for more information about referrals or call 1-800-252-8023 for referral to a genetic service provider.

Genetic services
Birth Defects Unusual Physical Features
Cataracts Ears
Cleft lip and/or cleft palate Ear pits or tags
Congenital heart disease Unusually shaped ears
Contractures  
Diaphragmatic hernia Eyes
Genital malformations Different colored eyes
Glaucoma Down slanting eyes
Misshapen skull Epicanthal folds
Missing fingers or toes Up slanting eyes
Missing or incomplete limbs Wide-spaced eyes
Spina bifida  
Other congenital anomalies Face
  Facial asymmetry
   
Chronic Disease Hair
Bleeding disorders Brittle or sparse hair
Childhood cancers Excessive body hair
Kidney or urinary tract disease White patch of hair
Slow growth or short stature  
Cystic fibrosis Mouth
Degenerative disease Large or small tongue
Thalassemia Misshapen teeth
Other chronic disease Missing or extra teeth
  Smooth philtrum
Developmental Problems Thin upper lip
Autism  
Attention deficit/hyperactivity Skeletal
Developmental delay Loose joints
Failure to thrive Unusually tall or short stature
Learning disability Webbing between fingers or toes
Low muscle tone  
Mental illness Skin
Mental retardation Excessive skin
Regression Increased or decreased sweating
Speech problems Many birthmarks
  Any other unusual features
Sensory Deficits  
Extreme farsightedness  
Extreme nearsightedness  
Hearing loss  

When Does An Adult Need Genetic Services?

Any of the following could indicate a need for genetic services. Please contact your local genetic service provider for more information about referrals or call 1-800-252-8023 for referral to a genetic service provider.

When Does An Adult Need Genetic Services?
Ethnic Background Family History
Jewish or French Canadian Acute intermittent porphyria
Afro-American or East Indian Auto immune diseases
Asian, Greek, or Italian Alzheimer’s disease
  Birth defects
Medical History Blindness
Birth defects Cancer - especially breast or colon
Blindness Cleft lip or palate
Diabetes Congenital heart disease
Cancer Cystic fibrosis
Carrier status for inherited disorders Deafness
Degenerative diseases Degenerative disease
Hearing loss Down syndrome
Mental retardation Dwarfism
Mental illness Early onset (under 35) cancer
Other genetic disease ­­­­­­­­­­­­­­­­­­­­­­____________ Early onset (under 35) emphysema
  Early onset (under 35) heart disease
Reproductive History Fragile X syndrome
Advanced paternal age (45 or older) Galactosemia
Advanced maternal age (34 or older) Hemophilia or bleeding disorder
Two or more miscarriages Huntington’s disease
Stillbirths Hydrocephalus
Previous children with birth defects Infant or childhood death
Previous children with learning delays Mental retardation
Unexplained infertility Muscular dystrophy
  Phenylketonuria
Pregnancy Exposures Including:* Polycystic kidney disease
Alcohol Sickle cell trait
Cat litter box Spina bifida
Chemicals Tay-Sachs carrier
High fever Thalassemia trait
Infection Other genetic disease ____________
Prescription and other medications  
Smoking  
Recreational drugs  
Pregnancy complicated by medical problems such as asthma, lupus, diabetes, seizures, etc.  

*Call Teratogen Hotline (1-855-884-7248) for more information regarding exposures during current or post pregnancies.

 

Last updated September 08, 2014