When Genetic Services Are Needed

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 a referral to a genetic service provider.

Common Reasons for Genetic Referrals

Birth Defects

• Cataracts
• Cleft Lip and/or Cleft Palate
• Congenital Heart Disease
• Contractures
• Diaphragmatic Hernia
• Genital malformations
• Glaucoma
• Misshapen skull
• Missing fingers or toes
• Missing or incomplete limbs
• Spina Bifida
• Other congenital anomalies

Chronic Disease

• Bleeding disorders
• Childhood cancers
• Cystic Fibrosis
• Degenerative disease
• Kidney or urinary tract disease
• Slow growth or short stature
• Thalassemia
• Other chronic diseases

Developmental Problems

• Autism Spectrum Disorder (ASD)
• Attention-Deficit/Hyperactivity Disorder
• Developmental delays
• Failure to thrive
• Intellectual Disability
• Learning Disability
• Low muscle tone
• Regression
• Slow growth or short stature 
• Speech problems

Sensory Deficits

• Blindness
• Extreme farsightedness
• Extreme nearsightedness
• Hearing loss

Unusual Physical Features

Ears

• Ear pits or tags
• Unusually shaped ears

Eyes

• Different colored eyes
• Down slanting eyes
• Epicanthal folds
• Up-slanting eyes
• Wide-spaced eyes

Face

• Facial asymmetry

Hair

• Brittle or sparse hair
• Excessive body hair
• White patch of hair
• Unusually low hairline on
  forehead or at nape of neck

Mouth

• High-arched palate
• Large or small tongue
• Misshapen teeth
• Missing or extra teeth
• Smooth philtrum
• Thin upper lip

Skeletal

• Loose joints
• Unusually tall or short stature
• Webbing between fingers or toes

Skin

• Excessive skin
• Increased or decreased sweating
• Many birthmarks
• Any other unusual features

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.

Possible Indications An Adult May Need Genetic Services

Ethnic Background

• African American
• Ashkenazi Jews
• East Indian
• French Canadian
• Asian, Greek, or Italian

Medical History

• Birth defects
• Blindness
• Diabetes
• Cancer
• Carrier status for inherited disorders
• Degenerative diseases
• Hearing loss
• Intellectual disability
• Mental illness
• Other genetic disease

Reproductive History

• Advanced paternal age (40 or older)
• Advanced maternal age (35 or older)
• Two or more miscarriages
• Stillbirths
• Previous children with birth defects
• Previous children with learning delays
• Unexplained infertility
• Pregnancy complicated by medical problems
  such as asthma, lupus, diabetes, and seizures

Pregnancy Exposures and Teratogens*:

• Alcohol
• Cat litter and cat feces
• Chemicals
• High fever
• Infection
• Prescription and other medications
• Smoking
• Recreational drugs

Family History

• Acute Intermittent Porphyria
• Autoimmune diseases
• Alzheimer’s Disease
• Birth defects
• Blindness
• Cancer, especially breast or colon
• Cleft lip or palate
• Congenital heart disease
• Cystic Fibrosis
• Deafness
• Degenerative Disease
• Down Syndrome
• Dwarfism
• Early onset (under 35) cancer
• Early onset (under 35) emphysema
• Early onset (under 35) heart disease
• Fragile X syndrome
• Galactosemia
• Hemophilia or bleeding disorder
• Huntington’s Disease
• Hydrocephalus
• Infant or childhood death
• Intellectual Disability
• Muscular Dystrophy
• Phenylketonuria
• Polycystic Kidney Disease
• Sickle Cell Trait
• Spina Bifida
• Tay-Sachs carrier
• Thalassemia Trait
• Other genetic disease

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

Texas TIPS (Texas Teratogen Information on Pregnancy Services), an affiliate of MotherToBaby, is a free confidential counseling and information resource that provides information about exposures related to pregnancy and breastfeeding.