GeneReviews Resource Materials

Genetic Testing: Current Approaches (revised 6-18-20)

Introductory Information

Detailed Information for Clinicians Ordering Genetic Tests

References

Limitations of Clinical Exome Sequencing: Genetic Disorders Not Reliably Diagnosed

Genetic Disorders Caused by Imprinting Errors and Uniparental Disomy Not Detectable by Sequence Analysis (3-14-17)

Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions (revised 10-20-22)

Genes with Highly Homologous Gene Family Members or a Pseudogene(s) (3-8-18)

Epigenetic Signature Analysis: An Introduction (revised 6-30-22)

An introduction to epigenetic signature analysis and comparison of gene-specific genome-wide methylation analysis and epigenetic modifications to specific regions of the genome

Mosaicism (10-27-22)

The occurrence within a single individual or tissue of two or more cell lines with a different genetic or chromosomal composition, involving somatic cells, germline cells, and/or tumor cells. Implications for molecular genetic testing and genetic counseling are discussed.

Founder Variants by Population: Genes and Disorders (revised 12-7-23)

Pathogenic variants observed at high frequency in specific populations due to the presence of the variant in a single ancestor or small number of ancestors

• Acadian (5-26-22)
• Afrikaner (8-11-22)
• Amish (revised 12-7-23)
• Apache (revised 1-12-23)
• Ashkenazi Jewish (revised 10-20-22)
• Bedouin (8-18-22)
• Bukharan Jewish (9-29-22)
• Choctaw (revised 6-1-23)
• Costa Rican (6-30-22)
• Cree and/or Ojibway (revised 6-1-23)
• Druze (revised 9-28-23)
• Faroe Islander (revised 1-12-23)
• Finnish (revised 5-4-23)
• Georgian Jewish (9-29-22)
• Gitxsan (8-11-22)
• Hutterite (revised 12-1-22)
• Inuit (revised 8-24-23)
• La Réunion Island (revised 10-19-23)
• Lumbee (revised 1-12-23)
• Māori (1-12-23)
• Mennonite (6-1-23)
• Métis (6-16-22)
• Navajo (revised 11-3-22)
• Newfoundland and Labrador (revised 8-17-23)
• Pueblo (9-29-22)
• Romani (8-11-22)
• Sephardic Jewish (1-12-23)
• Yup'ik (revised 6-30-22)
• Zuni (8-11-22)

Direct-to-Consumer Testing (6-13-19)

The Undiagnosed Diseases Network (3-15-18)