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

617 tests · Page 8 of 21

• Desbuquois syndrome (CANT1 gene, NGS)

  Code 10622 · Next-generation sequencing (NGS)

  Genes: CANT1

  Turnaround time: 33 working days

• Desbuquois syndrome (XYLT1 gene, NGS)

  Code 10623 · Next-generation sequencing (NGS)

  Genes: XYLT1

  Turnaround time: 33 working days

• Diabetes, MODY type (15-gene panel, NGS)

  Code 3221 · Next-generation sequencing (NGS)

  Genes: ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A and 7 more

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (18-gene panel, NGS)

  Code 3268 · Next-generation sequencing (NGS)

  Genes: GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5 and 10 more

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS19 gene, sequencing)

  Code 3251 · Sanger sequencing

  Genes: RPS19

  Turnaround time: 33 working days

• DICER1 syndrome (pleuropulmonary blastoma) (DICER1 gene, NGS)

  Code 10060 · Next-generation sequencing (NGS)

  Genes: DICER1

  Turnaround time: 33 working days

• Differences of sex development (32-gene panel, NGS)

  Code 3271 · Next-generation sequencing (NGS)

  Genes: AKR1C2, AR, ARX, ATRX, CBX2, CDKN1C, CHD7, CUL4B and 24 more

  Turnaround time: 33 working days

• Dihydropyrimidine dehydrogenase deficiency, DPYD gene mutation

  Code 3185 · PCR

  Genes: DPYD

  Turnaround time: 13 working days

• Distal arthrogryposis type 2B (MYH3 gene, NGS)

  Code 10293 · Next-generation sequencing (NGS)

  Genes: MYH3

  Turnaround time: 33 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

• Donnai-Barrow syndrome (6-gene panel, NGS)

  Code 10799 · Next-generation sequencing (NGS)

  Genes: CLCN5, EFNB1, GPSM2, KIF7, LRP2, OCRL

  Turnaround time: 33 working days

• Dopa-responsive dystonia, autosomal recessive (Segawa syndrome) (TH gene, NGS)

  Code 10737 · Next-generation sequencing (NGS)

  Genes: TH

  Turnaround time: 33 working days

• Dravet syndrome (severe myoclonic epilepsy of infancy) (SCN1A gene, NGS)

  Code 10800 · Next-generation sequencing (NGS)

  Genes: SCN1A

  Turnaround time: 33 working days

• Duane-radial ray syndrome (SALL4 gene, NGS)

  Code 10801 · Next-generation sequencing (NGS)

  Genes: SALL4

  Turnaround time: 33 working days

• Dubin-Johnson syndrome (ABCC2 gene, NGS)

  Code 10802 · Next-generation sequencing (NGS)

  Genes: ABCC2

  Turnaround time: 33 working days

• 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

• 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, ectrodactyly, and macular dystrophy (EEM syndrome) (CDH3 gene, NGS)

  Code 10671 · Next-generation sequencing (NGS)

  Genes: CDH3

  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

• Ehlers-Danlos syndrome type I/type II (classical) (COL5A2 gene, NGS)

  Code 10811 · Next-generation sequencing (NGS)

  Genes: COL5A2

  Turnaround time: 33 working days