Our in-house CLIA-certified biochemical and molecular genetics laboratory offers a variety of testing options for patients. Some of the most common tests include amino acid analysis, real-time molecular diagnostic testing, molecular cytogenetic analysis, next generation sequencing (our Plain Insight Panel™), and exploratory gene mapping.
Since we are non-profit organization that is substantially supported by the unique populations we serve, our laboratory cannot accept outside samples and reserves the right to refuse samples sent without prior authorization.
Most molecular genetic testing is limited to pathogenic mutations found in Old Order Amish and Mennonite populations. Information regarding our laboratory services is provided below for the benefit of our patients and their local healthcare providers.
Molecular Genetic Analysis
2-3 ml whole blood in EDTA (lavender top tube.) Ship whole blood at room temperature by overnight express (FedEx or UPS.) Do not freeze whole blood. A completed and signed consent and requisition form must accompany the sample. To view the list of diseases and mutations, please click here.
Amino Acid Analysis
- >1 ml serum or plasma, frozen and shipped on dry ice
- Guthrie card (filter paper) with four, >1 cm diameter blood spots
Ship by Priority Overnight Express (either FedEx or UPS, not USPS) Monday through Thursday. If samples are shipped on a Friday, they will not reach our laboratory until Monday since our laboratory is closed on Saturday and Sunday.
If critical testing is required over a weekend, you must call the clinic at 717-687-9407 to make special arrangements for delivery. Failure to do so will result in testing delays. A completed and signed consent and requisition form must accompany all samples submitted to the laboratory.
Consent and Requisition Forms
All requests for molecular genetic testing (carrier tests, diagnostic tests, etc.) must be accompanied by a completed and signed consent and requisition form.
Lab Guidelines Sheet
To download a printable flyer detailing our laboratory guidelines, please click HERE.
Please read the specimen requirements above and ship samples by overnight express (FedEx or UPS) Monday-Thursday to the following address:Clinic for Special Children
Attn: Dr. Erik G. Puffenberger, Lab Director
535 Bunker Hill Road
Strasburg, PA 17579
The Clinic for Special Children does not bill insurance companies. Since we are a non-profit organization, laboratory services are offered at a reduced cost compared to other laboratories. If payment is not received with the sample, or prior arrangements have not been made with our billing staff, the test may be delayed or refused. Current charges are as follows:
Targeted mutation detection (carrier or diagnostic testing for a known, specific mutation)
- First mutation: $50 per sample
- Subsequent mutations: $35 per sample per mutation
- First mutation: $85 per couple (must be same mutation for each sample)
- Subsequent mutations: $70 per couple
Amino Acid Analysis
$75 per sample ($150 for new patients)
CLIA ID: 39D0662473, PA Lab ID: 021547, EIN: 23-2555373
DISEASES & MUTATIONS
For carrier or diagnostic testing for a known specific mutation, please specify the mutation.
SCHEDULE AN APPOINTMENT
The Clinic provides primary medical care for children and adults with complex genetic disorders. All new patient applications are reviewed by our clinical staff.
Help us to continue to provide patients with timely, affordable and effective care!
Our clinic serves as a trusted medical home for families working to prevent and treat genetic illness in their children. Serving predominantly Amish and Mennonite families, the sturdy, timber-framed building was "raised" by the hands of those in the Anabaptist community outside of Strasburg, PA. Inside the clinic is filled with an array of high-tech gene sequencing that allows us to deliver state of the art care in a nurturing environment.