Indications for a Genetics Referral-old

There are many possible indications for a genetics evaluation.  The categorized indications below can help primary and specialty care providers to determine when a genetics evaluation could be beneficial.  Multiple types of genetics professionals, including Medical Geneticists (MDs) or Certified Genetic Counselors (CGCs), or Advanced Practice Professionals with specialized training in genetics may provide genetics services.

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Prenatal and/or Preconceptional Indications

  • Advanced maternal age (>35 years at delivery)
  • Positive maternal serum marker screen
  • Teratogen exposure or maternal illness during pregnancy
  • Three or more miscarriages or stillbirths
  • Abnormalities on ultrasound
  • Previous child with birth defects, chromosomal abnormalities or genetic condition
  • Family history of birth defects, chromosomal abnormalities or genetic condition
  • Ethnic background associated with a genetic condition
  • Consanguinity (mother and father are blood relatives)
  • Known carrier status of one or both partners
  • Parental concerns

Pediatric Indications

  • Developmental delay, autism, intellectual disability or neurodevelopmental disorder
  • Developmental regression or loss of acquired skills
  • Dysmorphic features
  • Under or overgrowth
  • Failure to thrive
  • Seizure disorder of unknown cause
  • Hypotonia
  • Abnormal or ambiguous newborn screening results
  • Birth defect (single major anomalie or 3 or more minor anomalies)
  • Ambiguous genitalia
  • Family history of genetic or chromosomal condition
  • Family history of childhood cancers
  • Parental concern

Cancer Indications

  • Cancer diagnosed less than age 50
  • Two or more primary cancers diagnosed in the same patient
  • Multiple family members affected by cancer
  • Known cancer gene mutation in family
  • 10 or more colorectal polyps of any histology
  • Hereditary cancer susceptibility syndromes, including but not limited to:
    • Birt-Hogg-Dube
    • Carney complex
    • Constitutional Mismatch Repair Deficiency
    • Cowden syndrome (aka PTEN Hamartoma Tumor syndrome)
    • Familial Adenomatous Polyposis and Attenuated Familial Adenomatous Polyposis
    • Familial Gastrointestinal Stromal Tumor
    • Familial Pancreatic Cancer
    • Familial Prostate Cancer
    • Hereditary Breast-Ovarian Cancer syndrome
    • Hereditary Diffuse Gastric Cancer
    • Hereditary Leiomyomatosis and Renal Cell Cancer
    • Hereditary Melanoma (aka Familial Atypical Mole and Malignant Melanoma)
    • Hereditary Mixed Polyposis syndrome
    • Hereditary Papillary RCC
    • Hereditary Paraganglioma-Pheochromocytoma syndrome
    • Hereditary Retinoblastoma
    • Juvenile Polyposis syndrome
    • Li-Fraumeni syndrome
    • Lynch syndrome
    • Melanoma-Astrocytoma syndrome
    • Multiple Endocrine Neoplasia type 1
    • Multiple Endocrine Neoplasia type II
    • MUTYH-associated Polyposis
    • Nevoid Basal Cell Carcinoma
    • Peutz-Jaghers syndrome
    • Rhabdoid Tumor Predisposition syndrome types I and II
    • Serrated Polyposis syndrome
    • Tuberous Sclerosis complex
    • Von Hippel-Lindau syndrome

Adult Indications

  • Coronary artery disease under age 50 years
  • Infertility or multiple pregnancy losses
  • Premature ovarian failure
  • Unexplained or hereditary neurologic or neurodegenerative disorders
  • Cognitive impairment
  • Dysmorphic features
  • Connective tissue disorders (i.e., Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome etc.).  Note that Hypermobility type Ehlers-Danlos syndrome referrals may be denied by some genetics providers given a genetic cause has not yet been identified, even though one may exist.
  • Aneurysms or dilations of the vessels in the body (aortic aneurysm, abdominal dilatations, etc.)
  • Suspicion of hereditary cardiomyopathy or arrhythmia
  • Excessive bleeding or clotting
  • Early-onset or progressive hearing loss
  • Early-onset or progressive vision loss
  • Family history of genetic or chromosomal condition
  • Patient concerns

*Note: adult patients may be seen in most pediatric or cancer genetics clinics. Call the clinic to inquire if the indication is appropriate.

Family History

  • Earlier onset or more severe presentation of a condition than is typical
  • Multiple affected family members, particularly if affected individuals are first-degree relatives
  • Condition occurs in the less-frequent sex