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


  • Ear pits or tags
  • Unusually shaped ears


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


  • Facial asymmetry


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


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


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


  • 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.