- Decide how many individuals will be donating a sample
- Decide what type of sample each individual would like to donate
Kit Paperwork | Description |
Kit Contents | Provides the full list of items found in both pediatric and adult blood and biopsy kits |
Blood Kit Instructions |
Provides detailed instructions for packaging and shipping blood donations |
Biopsy Kit Instructions | Provides detailed instructions for packaging and shipping biopsy donations, in addition to providing the clinician with instructions on how to perform a skin biopsy |
Informed Consent Form | Consent form that must be completely read and signed by each donor |
Assent Form | Form that must be signed ONLY if the donor is between the ages of 7-17 and intellectually capable |
Submission Form | Form that must be submitted for each donor and describes donor's basic information |
Clinical Data Elements Form (General) | Form that should be submitted for affected individuals only and details this individual's clinical symptoms |
Kit Paperwork | Description |
Clinical Data Elements Form (Chromosomal Abnormalities) | Form that should be submitted for individuals affected by a chromosomal abnormality only and details this individual's clinical symptoms |
Clinical Data Elements Form (Congenital Muscular Dystrophy CMD) | Form that should be submitted for individuals affected by congenital muscular dystrophy only and details this individual's clinical symptoms |
Clinical Data Elements Form (Rett Syndrome; MECP2) | Form that should be submitted for individuals affected by Rett syndrome only and details this individual's clinical symptoms |
Clinical Data Elements Form (Smith-Magenis Syndrome) | Form that should be submitted for individuals affected by Smith-Magenis syndrome only and details this individual's clinical symptoms |
Clinical Data Elements Form (Propionic Acidemia) | Form that should be submitted for individuals affected by propionic acidemia only and details this individual's clinical symptoms |
Clinical Data Elements Form (Pitt-Hopkins Syndrome) | Form that should be submitted for individuals affected by Pitt-Hopkins syndrome only and details this individual's clinical symptoms |
Documentos |
Descripción |
Formulario de Consentimiento Informado | Formulario de consentimiento que debe ser leído y firmado por cada donante |
Formulario de Asentimiento | Formulario que debe utilizarse junto con el documento de consentimiento informado por donante jóven entre 7 y 17 años de edad |
Formato de Solicitud | Formulario que debe presentarse para cada donante y describe la información básica del donante |
Formulario de Elementos de Datos Clínicos (General) | Formulario que debe enviarse solo para individuos afectados y detalla los síntomas clínicos de este individuo |
Formulario de Elementos de Datos Clínicos (Por Anomalías Cromosómicas) | Formulario que debe enviarse solo para individuos afectados por anomalías cromosómicas y detalla los síntomas clínicos de este individuo |
Documento de Consentimiento Informado para la Transferencia de Muestras Existentes | Formulario de consentimiento que debe ser leído y firmado por donante de una muestra ya collectada (incluye línea celular) |