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

237 tests · Page 3 of 8

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 3 (CAV1 gene, NGS)

  Code 11092 · Next-generation sequencing (NGS)

  Genes: CAV1

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 4 (PTRF gene, NGS)

  Code 11093 · Next-generation sequencing (NGS)

  Genes: PTRF

  Turnaround time: 33 working days

• Congenital heart defects (NKX2-5 gene, NGS)

  Code 10534 · Next-generation sequencing (NGS)

  Genes: NKX2-5

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (5-gene panel, NGS)

  Code 10514 · Next-generation sequencing (NGS)

  Genes: HDAC8, NIPBL, RAD21, SMC1A, SMC3

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (NIPBL gene, NGS)

  Code 10515 · Next-generation sequencing (NGS)

  Genes: NIPBL

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (SMC1A gene, NGS)

  Code 10516 · Next-generation sequencing (NGS)

  Genes: SMC1A

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (SMC3 gene, NGS)

  Code 10517 · Next-generation sequencing (NGS)

  Genes: SMC3

  Turnaround time: 33 working days

• Costello syndrome (HRAS gene, NGS)

  Code 10519 · Next-generation sequencing (NGS)

  Genes: HRAS

  Turnaround time: 33 working days

• C syndrome (CD96 gene, NGS)

  Code 10403 · Next-generation sequencing (NGS)

  Genes: CD96

  Turnaround time: 33 working days

• Desminopathy (DES gene, NGS)

  Code 10626 · Next-generation sequencing (NGS)

  Genes: DES

  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 (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

• DiGeorge syndrome (TBX1 gene, NGS)

  Code 10646 · Next-generation sequencing (NGS)

  Genes: TBX1

  Turnaround time: 33 working days

• Dilated cardiomyopathy (62-gene panel, NGS)

  Code 3248 · Next-generation sequencing (NGS)

  Genes: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FHL1, FKTN, FLNC, GATA4, GATAD1, GLA, HFE, HJV, ILK, LA…

  Turnaround time: 33 working days

• Dilated cardiomyopathy (DCM) (23-gene panel, NGS)

  Code 10422 · Next-generation sequencing (NGS)

  Genes: TNNT2, MYH7, CSRP3, PLN, TCAP, ABCC9, LMNA, DMD and 15 more

  Turnaround time: 33 working days

• Dilated cardiomyopathy (lamin A/C)

  Code 3112 · Sequencing

  Genes: LMNA

  Turnaround time: 43 working days

• Dilated cardiomyopathy (WES-based panel, NGS, CNVs)

  Code 3460 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Dilated cardiomyopathy with cardiac conduction defect (2-gene panel, NGS)

  Code 10423 · Next-generation sequencing (NGS)

  Genes: SCN5A, LMNA

  Turnaround time: 33 working days

• Distichiasis, lymphedema, and cleft palate (FOXC2 gene, NGS)

  Code 10731 · Next-generation sequencing (NGS)

  Genes: FOXC2

  Turnaround time: 33 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

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

  Code 10801 · Next-generation sequencing (NGS)

  Genes: SALL4

  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