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Laboratory Services

Our CLIA-certified biochemical and molecular genetics laboratory provides a variety of tests for patients. Some of the most common tests include amino acid analysis, real-time molecular diagnostic testing, molecular cytogenetic analysis, and exploratory gene mapping. Since we are a small, non-profit organization that is substantially supported by the unique populations we serve, the 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 Mennonite populations. Information regarding laboratory services is provided below for the benefit of our patients and their local healthcare providers.

Lab Requirements

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

Either:

  • >1 ml serum or plasma, frozen and shipped on dry ice
  • Guthrie card (filter paper) with four, >1 cm diameter blood spots

Shipped by overnight express (FedEx or UPS.) A completed and signed consent and requisition form must accompany the sample.

Consent and Requisition Forms

All requests for molecular genetic testing (carrier tests, etc.) must be accompanied by a completed and signed consent and requisition form.

Shipping

Please read the specimen requirements above and ship samples by overnight express (FedEx or UPS) for delivery Monday-Friday to the following address:

Clinic for Special Children
Attn: Dr. Erik G. Puffenberger, Lab Director
535 Bunker Hill Road
Strasburg, PA 17579
Payment

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)

Individual samples:

  • First mutation: $50 per sample
  • Subsequent mutations: $35 per sample per mutation

Couples:

  • 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, specify the mutation.

See the list

SCHEDULE AN APPOINTMENT

The Clinic provides primary pediatric care for children with complex genetic disease. All patient applications are reviewed by the clinical staff.

Contact us

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.

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