qGenEx® MY. Myopathies

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Within the qGenEx services, the directed exome panels allow to restrict the study to a specific group of genes according to each specialty.

qGenEx MY, analyzes 58 genes associated with Myopathies using complete exome sequencing by NGS.

Use the search engine to find the group of genes included in the panel related to the pathology you are interested in:
gene
ACTA1
ACTN2
ADSS1
AR
BIN1
CACNA1S
CCDC78
CFL2
COL12A1
COL6A1
COL6A2
COL6A3
DMPK
DNM2
DOK7
ECEL1
EPG5
FKBP14
FXR1
KBTBD13
KLHL40
KLHL41
LMNA
LMOD3
MEGF10
MICU1
MTM1
MYBPC1
MYH2
MYH3
MYH7
MYH8
MYL1
MYO18B
MYPN
NEB
ORAI1
PAX7
PIEZO2
PYROXD1
RYR1
RYR3
SCN4A
SELENON
SLC25A4
SPEG
STAC3
STIM1
MYMK
TNNI2
TNNT1
TNNT3
TPM2
TPM3
TRIP4
TTN
VMA21
MAP3K20

One analysis for each specialty… and for All.

Download the informed consent document HERE

Access the order platform Print application form
How to order a test
  1. Identify the adequate test from our service catalogue.
  2. Prepare the test application form and fill in all the information available both for the sample and the clinical record to guarantee highest quality of test results and shortest response time.
  3. It is crucial to correctly identify the sample with patient name or identifier and date of birth.
  4. Print the completed application form and sign it.
  5. Collect the required sample quantity.
  6. Properly prepare the sample shipment along with the application form.
  7. Alternatively, the order can be processed conveniently via our online order platform.
Required specifications for biologic samples
  • Blood – 1 EDTA tube with 3-5 ml (children 1ml minimum)
  • Purified DNA – usually >5 ug, at >50 ng/ul
  • Saliva or buccal swab – Request collection kit
  • Blood on filter paper – A minimum of 10 spots on Guthrie card or filter paper
  • Amniotic fluid – Minimum of 10 ml
  • CVS – Minimum of 2-3 villi
  • Cord blood – Minimum 1 ml
  • Cultured cells – 1 vial of 25 ml, minimum 80% confluence
  • Biopsy or fresh tissue – More than 10 mg of tissue
  • Paraffin-embedded tissue – At least 10 cuts of 20 um
  • cfDNA – 1 tube DNA BCT Streck with 10 ml of blood
How to prepare your sample for shipping

Call us at +34 932.301.270 and we will take care of a smooth sample pick-up and shipping.

How to prepare your sample for shipping?

  • Blood-EDTA, purified DNA, saliva, blood on paper, cord blood, biopsy, … are stable at room temperature for 3 or 4 days. Samples can be sent, adequately protected, by ordinary mail or courier.
  • Amniotic fluid (a minimum of 10 ml collected in a sterile falcon test tube). Can be sent at room temperature and low temperatures should be avoided. Samples should reach our laboratory in no more than 24 hours.
  • Chorionic villi samples must travel in the same way, in a tube with conical bottom FILLED TO CAPACITY with PBS or culture medium.
  • Cultured cells should be shipped at room temperature, in a culture flask filled to capacity with culture medium.
  • Blood for cfDNA analysis: must be shipped at room temperature.