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

453 tests · Page 4 of 16

• Chromosomal microarray analysis, SNPs, HD (high density)

  Code 3293 · Comparative genomic hybridization

  Genes: CGH

  Turnaround time: 33 working days

• Chromosome 9 subtelomeric deletions (FISH)

  Code 3319 · Fluorescence in situ hybridization (FISH)

  Genes: FISH Cromossoma 9

  Turnaround time: 10 working days

• Chudley-McCullough syndrome (GPSM2 gene, NGS)

  Code 10474 · Next-generation sequencing (NGS)

  Genes: GPSM2

  Turnaround time: 33 working days

• CK syndrome (NSDHL gene, NGS)

  Code 10484 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• Clubfoot (PITX1 point mutation)

  Code 11290 · Next-generation sequencing (NGS)

  Genes: PITX1

  Turnaround time: 33 working days

• Cockayne syndrome (2-gene panel, NGS)

  Code 10488 · Next-generation sequencing (NGS)

  Genes: ERCC6, ERCC8

  Turnaround time: 33 working days

• Cockayne syndrome (ERCC6 gene, NGS)

  Code 10489 · Next-generation sequencing (NGS)

  Genes: ERCC6

  Turnaround time: 33 working days

• Cockayne syndrome (ERCC8 gene, NGS)

  Code 10487 · Next-generation sequencing (NGS)

  Genes: ERCC8

  Turnaround time: 33 working days

• Coffin-Lowry syndrome (RPS6KA3 gene, NGS)

  Code 10490 · Next-generation sequencing (NGS)

  Genes: RPS6KA3

  Turnaround time: 33 working days

• Cohen syndrome, VPS13B gene c.3348_3349delCT mutation

  Code 10491 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• Cohen syndrome (VPS13B gene, NGS)

  Code 10492 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• Complete cystic fibrosis (CFTR) gene testing

  Code 3074 · Sequencing

  Genes: CFTR

  Turnaround time: 48 working days

• Complex cortical dysplasia with other brain malformations (KIF21A gene, NGS)

  Code 10665 · Next-generation sequencing (NGS)

  Genes: KIF21A

  Turnaround time: 33 working days

• Congenital erythroblastopenia (Blackfan-Diamond anemia) and differential diagnosis (18-gene panel, NGS)

  Code 10154 · Next-generation sequencing (NGS)

  Genes: GATA1, RPL11, RPL15, RPL19, RPL26, RPL35A, RPL5, RPS10 and 10 more

  Turnaround time: 33 working days

• Congenital erythropoietic porphyria (UROS gene, NGS)

  Code 11302 · Next-generation sequencing (NGS)

  Genes: UROS

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 1 (AGPAT2 gene, NGS)

  Code 11090 · Next-generation sequencing (NGS)

  Genes: AGPAT2

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 2 (BSCL2 gene, NGS)

  Code 11091 · Next-generation sequencing (NGS)

  Genes: BSCL2

  Turnaround time: 33 working days

• 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

• Congenital nonautoimmune hyperthyroidism (TSHR gene, sequencing)

  Code 3270 · Sanger sequencing

  Genes: TSHR

  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

• Craniofrontonasal dysplasia (EFNB1 gene, NGS)

  Code 10667 · Next-generation sequencing (NGS)

  Genes: EFNB1

  Turnaround time: 33 working days

• Craniosynostosis (22-gene panel, NGS)

  Code 10522 · Next-generation sequencing (NGS)

  Genes: ALX4, COLEC11, CYP26B1, EFNB1, ERF, FBN1, FGFR1, FGFR2 and 14 more

  Turnaround time: 33 working days

• Craniosynostosis (28-gene panel, NGS)

  Code 3306 · Next-generation sequencing (NGS)

  Genes: CYP26B1, EFNB1, ERF, FAM20C, FGFR1, FGFR2, FGFR3, FREM1 and 20 more

  Turnaround time: 33 working days