Test catalogue

Genetic tests available for sample collection at our units. Search by test name or gene, and filter by specialty.

This list is indicative: the availability and turnaround time of each test should be confirmed with the unit before collection. Results should always be interpreted by your doctor.

Results

911 tests · Page 11 of 31

• Duchenne/Becker muscular dystrophy (full sequencing of the DMD gene)

  Code 3111 · Sequencing

  Genes: DMD

  Turnaround time: 123 working days

• Dyggve-Melchior-Clausen syndrome (DYM gene, NGS)

  Code 10803 · Next-generation sequencing (NGS)

  Genes: DYM

  Turnaround time: 33 working days

• Dyskeratosis congenita (8-gene panel, NGS)

  Code 10698 · Next-generation sequencing (NGS)

  Genes: CTC1, DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53

  Turnaround time: 33 working days

• Dyskeratosis congenita (CTC1 gene, NGS)

  Code 10700 · Next-generation sequencing (NGS)

  Genes: CTC1

  Turnaround time: 33 working days

• Dyskeratosis congenita (DKC1 gene, NGS)

  Code 10701 · Next-generation sequencing (NGS)

  Genes: DKC1

  Turnaround time: 33 working days

• Dyskeratosis congenita (NHP2 gene, NGS)

  Code 10703 · Next-generation sequencing (NGS)

  Genes: NHP2

  Turnaround time: 33 working days

• Dyskeratosis congenita (NOP10 gene, NGS)

  Code 10704 · Next-generation sequencing (NGS)

  Genes: NOP10

  Turnaround time: 33 working days

• Dyskeratosis congenita (TERT gene, NGS)

  Code 10699 · Next-generation sequencing (NGS)

  Genes: TERT

  Turnaround time: 33 working days

• Dyskeratosis congenita (TINF2 gene, NGS)

  Code 10702 · Next-generation sequencing (NGS)

  Genes: TINF2

  Turnaround time: 33 working days

• Dyskeratosis congenita (WRAP53 gene, NGS)

  Code 10705 · Next-generation sequencing (NGS)

  Genes: WRAP53

  Turnaround time: 33 working days

• Dyssegmental dysplasia, Silverman-Handmaker type / Schwartz-Jampel syndrome (HSPG2 gene, NGS)

  Code 10679 · Next-generation sequencing (NGS)

  Genes: HSPG2

  Turnaround time: 33 working days

• Dystrophic epidermolysis bullosa (COL7A1 gene, NGS)

  Code 10861 · Next-generation sequencing (NGS)

  Genes: COL7A1

  Turnaround time: 33 working days

• Early infantile epileptic encephalopathy 9 (Dravet-like, EIEE) (PCDH19 gene, NGS)

  Code 10842 · Next-generation sequencing (NGS)

  Genes: PCDH19

  Turnaround time: 33 working days

• Early infantile epileptic encephalopathy (SCN8A gene, NGS)

  Code 10840 · Next-generation sequencing (NGS)

  Genes: SCN8A

  Turnaround time: 33 working days

• Early infantile epileptic encephalopathy (STXBP1 gene, NGS)

  Code 10841 · Next-generation sequencing (NGS)

  Genes: STXBP1

  Turnaround time: 33 working days

• Early infantile epileptic encephalopathy (TBC1D24 gene, NGS)

  Code 10839 · Next-generation sequencing (NGS)

  Genes: TBC1D24

  Turnaround time: 33 working days

• Early-onset epileptic encephalopathy type 27 (GRIN2B gene, NGS)

  Code 10074 · Next-generation sequencing (NGS)

  Genes: GRIN2B

  Turnaround time: 33 working days

• Early-onset infantile epileptic encephalopathy (CDKL5 gene, NGS)

  Code 10826 · Next-generation sequencing (NGS)

  Genes: CDKL5

  Turnaround time: 33 working days

• Early-onset myopathy, areflexia, respiratory distress, and dysphagia syndrome (EMARDD) (MEGF10 gene, NGS)

  Code 10185 · Next-generation sequencing (NGS)

  Genes: MEGF10

  Turnaround time: 33 working days

• Ectodermal dysplasia (5-gene panel, NGS)

  Code 10670 · Next-generation sequencing (NGS)

  Genes: EDA, EDAR, EDARADD, ERCC2, NFKBIA

  Turnaround time: 33 working days

• Ectrodactyly, ectodermal dysplasia and cleft palate, EEC syndrome (TP63 gene, NGS)

  Code 10806 · Next-generation sequencing (NGS)

  Genes: TP63

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome (9-gene panel, NGS)

  Code 10808 · Next-generation sequencing (NGS)

  Genes: ADAMTS2, B4GALT7, COL5A1, COL5A2, PLOD1, COL3A1, SLC39A13, COL1A1 and 1 more

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome, classical type (3-gene panel, NGS)

  Code 10807 · Next-generation sequencing (NGS)

  Genes: COL3A1, COL5A1, COL5A2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome, musculocontractural type (CHST14 gene, NGS)

  Code 10818 · Next-generation sequencing (NGS)

  Genes: CHST14

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome [next-generation sequencing, 46 genes (NGS)]

  Code 3210 · Next-generation sequencing (NGS)

  Genes: ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BGN, C1R and 38 more

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type III (COL3A1 gene, NGS)

  Code 10812 · Next-generation sequencing (NGS)

  Genes: COL3A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type III (COL5A3 gene, NGS)

  Code 10813 · Next-generation sequencing (NGS)

  Genes: COL5A3

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type III (TNXB gene, NGS)

  Code 10814 · Next-generation sequencing (NGS)

  Genes: TNXB

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type I/type II (classical) (2-gene panel, NGS)

  Code 10809 · Next-generation sequencing (NGS)

  Genes: COL5A1, COL5A2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type I/type II (classical) (COL5A1 gene, NGS)

  Code 10810 · Next-generation sequencing (NGS)

  Genes: COL5A1

  Turnaround time: 33 working days