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 10 of 31

• Dentinogenesis imperfecta, Shields type 2 (DSPP gene, NGS)

  Code 10620 · Next-generation sequencing (NGS)

  Genes: DSPP

  Turnaround time: 33 working days

• 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

• 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 (9-gene panel, NGS)

  Code 10378 · Next-generation sequencing (NGS)

  Genes: RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17 and 1 more

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (9-gene panel, NGS)

  Code 3252 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL11 gene, NGS)

  Code 10385 · Next-generation sequencing (NGS)

  Genes: RPL11

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL35A gene, NGS)

  Code 10381 · Next-generation sequencing (NGS)

  Genes: RPL35A

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL5 gene, NGS)

  Code 10380 · Next-generation sequencing (NGS)

  Genes: RPL5

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS10 gene, NGS)

  Code 10384 · Next-generation sequencing (NGS)

  Genes: RPS10

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS17 gene, NGS)

  Code 10383 · Next-generation sequencing (NGS)

  Genes: RPS17

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS19 gene, NGS)

  Code 10379 · Next-generation sequencing (NGS)

  Genes: RPS19

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS19 gene, sequencing)

  Code 3251 · Sanger sequencing

  Genes: RPS19

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS24 gene, NGS)

  Code 10382 · Next-generation sequencing (NGS)

  Genes: RPS24

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS26 gene, NGS)

  Code 10386 · Next-generation sequencing (NGS)

  Genes: RPS26

  Turnaround time: 33 working days

• Diastrophic dysplasia (SLC26A2 gene, NGS)

  Code 10668 · Next-generation sequencing (NGS)

  Genes: SLC26A2

  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

• DiGeorge syndrome (TBX1 gene, NGS)

  Code 10646 · Next-generation sequencing (NGS)

  Genes: TBX1

  Turnaround time: 33 working days

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

  Code 10291 · Next-generation sequencing (NGS)

  Genes: MYH3

  Turnaround time: 33 working days

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

  Code 10293 · Next-generation sequencing (NGS)

  Genes: MYH3

  Turnaround time: 33 working days

• Distal arthrogryposis type 2B (TPM2 gene, NGS)

  Code 10292 · Next-generation sequencing (NGS)

  Genes: TPM2

  Turnaround time: 33 working days

• Distal arthrogryposis type 7 (MYH8 gene, NGS)

  Code 10294 · Next-generation sequencing (NGS)

  Genes: MYH8

  Turnaround time: 33 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

• Dominant hypophosphatemia with nephrolithiasis or osteoporosis (SLC34A1 gene, NGS)

  Code 11017 · Next-generation sequencing (NGS)

  Genes: SLC34A1

  Turnaround time: 33 working days

• Dominant optic atrophy type 1 (OPA1 gene, NGS)

  Code 10327 · Next-generation sequencing (NGS)

  Genes: OPA1

  Turnaround time: 33 working days

• Dominant optic atrophy type 3 (OPA3 gene, NGS)

  Code 10328 · Next-generation sequencing (NGS)

  Genes: OPA3

  Turnaround time: 33 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

• 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