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IFU

  • Necessary information for sample analysis
  • Sample requirements
  • Shipment packaging requirements
  • Sample shipping/reception

Necessary information for sample analysis

To ensure prompt and correct reception and registration of the samples, please make sure that:

  • The shipped samples are properly labeled (i.e. initials/unique patient ID code, date of birth, etc.).
  • The following documents are submitted together with the sample:
    • A duly filled copy of the study request form.
    • Any additional documentation containing clinical information that may be relevant to result interpretation, both pertaining to the patient and, ideally, to other family members.
    • The informed consent form signed by the patient.

Before testing a sample, yield of DNA extraction will always be verified by an internal DNA quantification control. If DNA concentration is lower than the established thresholds, you will be contacted and a new sample will be requested if necessary.

Sample requirements

Our laboratory performs genetic testing on different types of biological specimens, according to the type of test required. To ensure sample stability and quality, please follow the recommendations and good practices on sample conservation and shipping detailed below (room temperature is defined as 15-30 °C, refrigerated as 4-10 °C, and for frozen samples, the freezing temperature must be specified: either -20 °C or -80 °C). This will allow obtaining reliable results and preventing failed or repeated tests.

For prenatal and other urgent tests, please do not hesitate to contact us at customercare@healthincode.com to clarify any questions or to notify us of the sample shipment.

Peripheral blood for DNA testing
  • 5-15 ml peripheral blood in EDTA tubes.
  • Please make sure that the blood and anticoagulant are correctly homogenized.
  • After collecting the sample, keep it at room temperature if the shipment will be done within the next 24 hours. If the sample will be shipped more than 72 hours after collection, keep it refrigerated.
  • Do not store refrigerated samples for longer than one month.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
  • Whole Genome Sequencing (WGS) – Long-Read (Third-Generation NGS) requirements:
    • 4 mL of peripheral blood into EDTA tubes. The sample must be kept refrigerated immediately after collection.
    • If shipping occurs within the first 48 hours, freezing the sample is not required. However, it must be shipped on dry ice.
    • If the sample will be shipped more than 48 hours after collection, it must be frozen at a minimum of -20°C prior to shipment and transported on dry ice.
Peripheral blood for RNA testing
  • 2.5 ml peripheral gene in PAXgene tubes (if you do not have any PAXgene tubes available, you can request them at customercare@healthincode.com).
  • To collect blood samples, please follow the instructions from the PAXgene tube manufacturer.
  • 3-5 ml peripheral blood in EDTA tubes, which will be used to confirm the results obtained by RNA analysis.
  • After collecting the sample, keep it at room temperature if the shipment will be done within the next 24 hours. If the sample will be shipped more than 72 hours after collection, keep it refrigerated.
  • Do not store refrigerated samples for longer than one month.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
Genomic DNA
  • 100 ng genomic DNA.
  • It is important to ensure that the extracted DNA’s absorbance ratio (A260/280) is within the interval between 1.7 and 2.1.
  • If the sample is not shipped immediately after DNA extraction, keep the samples refrigerated or frozen until shipment. Good practices indicate that DNA can be stored in refrigerated conditions up to one year and can be stored indefinitely at freezing temperatures (-20 °C or -80 °C) (e.g. samples stored in biobank facilities).
  • Sample shipment should maintain the same conditions as sample storage. If samples have been kept refrigerated, they should be shipped together with ice packs, while frozen samples should be shipped in dry ice.
  • For samples stored at room temperature and if the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
  • Before testing the received DNA, Health in Code will always verify the yield of DNA extraction performed by the client by means of an internal DNA quantification control. If DNA concentration is lower than the established thresholds, you will be contacted and a new sample will be requested if necessary.
Saliva
  • An ORAGENE®-DNA kit (OCR-100 or OG-600) should be used. If you do not have this kit available, you can request it at customercare@healthincode.com.
  • Health in Code does not recommend collecting buccal samples from buccal swabs.
  • To collect saliva samples, please follow the instructions from the ORAGENE kit manufacturer.
  • After collection, keep and ship the sample at room temperature.
Dried blood spot on paper
  • One FTA card (with 4 sample fields). If you do not have this kit available, you can request it at customercare@healthincode.com.
  • To collect the sample, please follow the instructions provided with the material received.
  • After collection, keep and ship the sample at room temperature.
Peripheral blood for non-invasive prenatal testing
  • Use a Genatal or a Genatal Plus kit. You can request a kit through our website at Genatal - Health in Code or by contacting us at customercare@healthincode.com.
  • To collect blood samples, please follow the instructions from the Genetal/Genetal Plus kit manufacturer.
  • After collection, keep and ship the sample at room temperature.
Prenatal samples
Amniotic fluid
  • ≥ 10 ml in a sterile conical tube.
  • 3-5 ml of the pregnant mother’s peripheral blood in EDTA tubes. This sample will be used to screen for maternal cell contamination.
  • Store the samples at room temperature and ship within 24 hours since collection, also at room temperature.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.

Important: Some amniotic fluid samples require a pre-analysis cultivation, as indicated in the following table.:

Study type MLPA ARRAY Exome Expansions Punctual mutation
(≤3 exons)
Sanger sequencing
(>3 exons)
Amniotic fluid Yes Yes Yes Yes No Yes

(Minimum volume for cultivation: 10ml.)
The cultivation of amniotic fluid samples will be analized by an external laboratory.

Chorionic villi
  • ≥ 10 clean villi in a sterile conical tube containing a supplemented transport medium.
  • 3-5 ml of the pregnant mother’s peripheral blood in EDTA tubes. This sample will be used to screen for maternal cell contamination.
  • Store the samples at room temperature and ship within 24 hours since collection, also at room temperature.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
Fetal blood
  • ≥ 1 ml cord blood in an EDTA tube.
  • Please make sure that the blood and anticoagulant are correctly homogenized.
  • After collecting the sample, keep it at room temperature if the shipment will be done within the next 24 hours. If the sample will be shipped more than 72 hours after collection, keep it refrigerated.
  • Do not store refrigerated samples for longer than one month.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
Fetal biopsy
  • ≥ 20 mg in a supplemented transport medium.
  • 3-5 ml of the pregnant mother’s peripheral blood in EDTA tubes. This sample will be used to screen for maternal cell contamination.
  • Store the samples at room temperature and ship within 24 hours since collection, also at room temperature.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
Cell culture (amniotic cells, chorionic villi cells, fibroblasts)
  • 1 flask tube with 80-90% confluency.
  • Store the samples at room temperature and ship within 24 hours since collection, also at room temperature.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
Tumor samples
Paraffin-embedded tissue (FFPE)
  • • The following types of preparations are recommended for this type of sample:
    • Paraffin-embedded tissue biopsy.
    • 8 to 10 paraffin block sections, 10 μm wide.
    • Fixed slides: 8 to 10 sections, 10 μm wide. The tumor area in the sample needs to be delimited and stained with eosin-hematoxylin.
    • 10-20 mg of tissue from a paraffin block.*
  • If sections of a paraffin block or tissue from a paraffin block are submitted, please indicate the estimated cellularity for the tumor sample (% of tumor cells vs. total sample cells). A tumor cellularity percentage of 30% is recommended; lower percentages may affect result interpretation.
  • Store the samples at room temperature and ship within 24 hours since collection, also at room temperature.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
Fresh or frozen tissue
  • 20 mg of tumor tissue in a sterile container, directly collected from the surgical piece or from several samples from a fine-needle aspiration biopsy.
  • Please indicate the estimated cellularity for the tumor sample (% of tumor cells vs. total sample cells). A tumor cellularity percentage of 50% is recommended; lower percentages may affect result interpretation.
  • Store the samples at room temperature and ship within 24 hours since collection, also at room temperature.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
Tumor cell lines
  • The following types of preparations are recommended for this type of sample:
    • Culture flask where the corresponding cell line is grown.
    • 10-20 mg of pellet obtained by centrifuging the culture at low rpm.
    • 6 to 8 10-μm-wide sections of formalin-fixed, paraffin-embedded cell culture in Eppendorf tubes.
  • Store the samples at room temperature and ship within 24 hours since collection, also at room temperature.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
Bone marrow aspirate
  • 2-3 ml in an EDTA tubes.
  • Please make sure that the sample and anticoagulant are correctly homogenized.
  • Store the samples at room temperature and ship within 24 hours since collection, also at room temperature.
  • If the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
Genomic DNA from tumor samples
  • → 250 ng genomic DNA
  • It is important to ensure that the sample has an absorbance ratio (A260/280) within the interval between 1.7 and 2.1 and a DIN → 6 when DNA has been extracted from bone marrow aspirate, tumor tissue (fresh or paraffin-embedded), or 10⁶ culture cells.
  • If DNA from tumor tissue is submitted, please indicate the estimated cellularity for the tumor sample (% of tumor cells vs. total sample cells). A tumor cellularity percentage of 30% is recommended for paraffin-embedded tissues and 50% for fresh tissues. Lower percentages may affect result interpretation.
  • If the sample is not shipped immediately after DNA extraction, keep the samples refrigerated or frozen until shipment. Good practices indicate that DNA can be stored in refrigerated conditions up to one year and can be stored indefinitely at freezing temperatures (-20 °C or -80 °C) (e.g. samples stored in biobank facilities).
  • Sample shipment should be done in the same conditions as sample storage. If samples have been kept refrigerated, they should be shipped together with ice packs, while frozen samples should be shipped in dry ice.
  • For samples stored at room temperature and if the temperature during transport is expected to exceed 35 °C, using ice packs is recommended.
  • Before testing the received DNA, Health in Code will always verify the yield of DNA extraction performed by the client by means of an internal DNA quantification control. If its parameters are lower than the established thresholds, you will be contacted and a new sample will be requested if necessary.
Peripheral blood for circulating tumor DNA extraction

Liquid biopsy

  • 2 Streck Cell-Free DNA Blood or PAXGene cfDNA tubes.
  • If the sample will not be shipped immediately after collection:
    • Streck Cell-Free DNA Blood tubes: keep at 6-37 °C for up to 14 days.
    • PAXGene cfDNA: keep at room temperature until shipment, depending on the time from collection to shipment: for 3 days, up to 37 °C; for 7 days, up to 30 °C; and for 14 days, up to 25 °C.
  • Sample shipment should be done in the same conditions as sample storage. If the temperature during transport is expected to increase, using ice packs is recommended.
Circulating tumor DNA

Liquid biopsy

  • 10-50 ng circulating tumor DNA. Extraction from blood, cerebrospinal fluid, or pleural fluid is recommended.
  • DNA must be quantified before shipment. It is recommended to use Agilent Technologies’ Cell-free DNA commercial kit. For this purpose, the detected DNA within a size range of 100-300 bp must be considered; this corresponds to ctDNA and allows discarding any jointly extracted gDNA.
  • Keep samples frozen (-80 ºC) until shipment.
  • Ship samples in dry ice, making sure that the container is suitable to maintain temperature during shipment.

Shipment packaging requirements

The packaging system must prevent breakage or damage, and triple packaging must be used according to the ADR Agreement, instruction P650 and/or IATA instruction 650.

For kit-collected samples, using either the kit manufacturer’s package or the box provided by Health in Code for sample return is recommended.

If ice packs or dry ice are used, they must be placed between the secondary and outer container. They must NEVER be placed inside the secondary container. The same applies to any documents submitted together with the samples.

The outer container, whether or not provided by the courier and regardless of the means of transportation, must include the following in a visible place:

  • Sender’s contact details: name, address, and phone number of a contact person who is informed about the shipment.
  • Health in Code’s contact details: Calle Travessia, 15E - Edificio Biohub, Marina de Valencia, 46024, Valencia. Spain.
  • The UN 3373 sticker or the sentence “Exempt Human Specimen”.
  • Temperature requirements during transport (recommended).

Sample shipping/reception

You can ship the samples yourself or submit them through our sample pickup service.

To appoint sample pickup, both in Spain and in other countries, it must be requested at least two hours in advance by one of the following means:

  • Calling (+34) 963 212 340. Selecting option 2.
  • Writing to recogidas@healthincode.com and indicating the place, date and time for pickup.
  • Monday to Thursday: 08:00-13:45 and 15:30-17:00.
  • Fridays and during July-August: 08:00-13:45.

Should you have any questions, our business hours are the following:

  • Monday-Thursday: 8:00 to 17:00.
  • Friday: 8:00 to 15:00.
  • July-August: 8:00 to 15:00.

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Versión 11

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