Genetic disorder resources for patients and families

If you or your child is diagnosed with a genetic disorder, we will help you understand your condition and where to go from here. You may also find the following resources helpful.

  • Chromosome Disorder Outreach - information and support for families and people with rare chromosome disorders
  • Gene Tests - expert-authored and peer-reviewed summaries about more than 540 genetic disorders
  • Genetic Alliance - network of over 1,000 advocacy organizations, universities, public agencies and private companies committed to transforming health through genetics
  • Genetic and Rare Conditions - information on national and international support groups for over 200 chromosomal/genetic conditions
  • March of Dimes - information on pregnancy, birth defects and genetic disorders
  • Mendelian Inheritance in Man - information about all known Mendelian conditions, how they are passed from parent to child, and over 12,000 genes
  • Penn State Cancer Genetics Program - individuals with information and guidelines to provide individuals information based on their family history and/or genetic test results that will help in the prevention and early detection of cancer.
  • Rare Chromosome Disorder Support Group - information and support to families and individuals with rare chromosome disorders
  • Woodbine House - special needs publishing company that produces books on Down syndrome, autism, deafness, intellectual disabilities and more

What’s new in genetics?

There have been many recent advancements in genetic testing. Scientists have invented new testing methods that can identify genetic disorders that old testing did not detect.

Microarray testing

One of main advancements in genetics is microarray testing. It can detect DNA changes that can’t be seen by looking at chromosomes under a microscope (called karyotype or chromosomal analysis).

Microarray testing is the new standard, especially when testing for developmental delays or intellectual disabilities, autism spectrum disorder and multiple congenital (present at birth) problems. 

If you or your child was tested before 2005 with routine testing (karyotype analysis) that did not reveal a diagnosis, contact us. You may want to have microarray testing.

Whole exome sequencing (WES)

WES may be able to detect a chromosome disorder that was not found with chromosomal microarray (CMA) testing. WES is able to identify “spelling changes” in DNA at the gene level that can help diagnose genetic disorders.

If you or your child was tested before 2014, contact us to discuss whole exome sequencing (WES).

Genetic counselors in Pennsylvania must be licensed

Professional license can ensure that patients and consumers are protected from unqualified providers and can feel confident that they are receiving quality genetic counseling services from reliable professionals.