Clinic for Special Children

535 Bunker Hill Road

Strasburg, PA 17579

Phone: 717-687-9407

Fax: 717-687-9237


Clinic Director:

D. Holmes Morton, MD


Executive Director:

Caroline Morton, EdM


Medical Director:

Kevin A. Strauss, MD


Laboratory Director:

Erik G. Puffenberger, PhD


Pediatrician:

Nicholas L. Rider, DO


Nurse Practitioner:

Donna L. Robinson, CRNP


Nurse:

Christine Hendrickson, RNC


Lab Technician:

Cris Mitchell, MT


Co-Office Manager:

Rebecca Smoker


Co-Office Manager:

Miriam Echternach

 
    The laboratory at the Clinic for Special Children performs amino acid analysis, urine organic acid analysis, and molecular genetic analyses. Since the clinic is a small, non-profit organization substantially supported by the unique populations we serve, the laboratory cannot accept outside samples. We do not possess the resources necessary to provide these services to patients outside the Amish and Mennonite populations. The biochemical tests that we offer are readily available at other testing laboratories throughout the country. The molecular genetic testing that we offer is limited to pathogenic mutations found in the Old Order Amish and Mennonite populations of southeastern Pennsylvania. Information regarding these laboratory services is provided here for the benefit of our patients and their local healthcare providers.
    In order to submit samples for testing, please follow the instructions below:
 
Specimen requirements:
    Molecular Genetic Analysis by PCR/Sequencing: 2-3 mls whole blood in EDTA (lavender top tube); ship whole blood at room temperature by overnight express (FedEx, UPS); ship cord blood refrigerated by overnight express do NOT freeze whole blood.
    Amino Acid Analysis by HPLC: Either (A) 2-3 mls whole blood in EDTA (lavender top tube), or (B) >1 ml serum or plasma, or (C) Guthrie card (filter paper); ship by overnight express (FedEx, UPS); whole blood and Guthrie cards should be shipped at room temperature (do NOT freeze whole blood); serum or plasma should be frozen and shipped on dry ice.
    Organic Acid Analysis by GC/MS: >10 mls of urine; ship by overnight express (FedEx, UPS); urine should be frozen and shipped on dry ice.

Payment: The Clinic for Special Children is non-profit and does not bill insurance companies. We offer these tests at reduced cost (versus comparable tests at other laboratories) to diagnose rare disorders and to identify carriers. If payment is not received with the sample or prior arrangements have not been made with our billing staff (Mim or Rebecca at 717-687-9407), the test may be delayed or refused. Testing and charges are as follows:
    Amino acid analysis: $50.00/sample.
    Organic acid analysis: $100.00/sample.
    Targeted mutation detection (i.e. carrier and/or diagnostic testing for a specific mutation): $50.00/sample/mutation. Our current list of mutations may be found here.
Consent Form: In addition to the Laboratory Requisition Form, all requests for Molecular Genetic Testing (targeted mutation detection, i.e. carrier tests) must be accompanied by a signed Consent Form.
Requisition Form: All requests for laboratory testing must be accompanied by a fully completed Laboratory Requisition Form. 
Shipping: Please read the specimen requirements (above) carefully. Samples should be shipped by overnight express (for delivery Monday-Friday) to the following address:
 
Clinic for Special Children 
Attn: Erik G. Puffenberger, Lab Director 
535 Bunker Hill Road 
Strasburg, PA 17579
 
CLIA ID: 39D0662473; PA Lab ID: 021547; EIN 23-2555373.Targeted_mutation_lists.htmlLaboratory_files/CSC_consent.pdfLaboratory_files/CSC_requisition.pdfshapeimage_2_link_0shapeimage_2_link_1shapeimage_2_link_2