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 7 of 31

• CHILD syndrome (NSDHL gene, NGS)

  Code 10473 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Chondrodysplasia punctata (9-gene panel, NGS)

  Code 10501 · Next-generation sequencing (NGS)

  Genes: AGPS, ARSE, CSTA, GNPAT, KRT6A, KRT6B, LBR, PEX14 and 1 more

  Turnaround time: 33 working days

• Chondrodysplasia with congenital joint dislocations (CHST3 gene, NGS)

  Code 10498 · Next-generation sequencing (NGS)

  Genes: CHST3

  Turnaround time: 33 working days

• CHRNG gene testing (NGS, CNVs)

  Code 3522 · Next-generation sequencing (NGS) + CNVs

  Genes: CHRNG

  Turnaround time: 33 working days

• Chromosomal microarray analysis, SNPs, 750K, postnatal testing

  Code 3291 · Comparative genomic hybridization

  Genes: CGH

  Turnaround time: 33 working days

• 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

• CINCA syndrome (neonatal-onset multisystem inflammatory disease) (NLRP3 gene, NGS)

  Code 10475 · Next-generation sequencing (NGS)

  Genes: NLRP3

  Turnaround time: 33 working days

• Citrullinemia (2-gene panel, NGS)

  Code 10480 · Next-generation sequencing (NGS)

  Genes: SLC25A13, ASS1

  Turnaround time: 33 working days

• CK syndrome (NSDHL gene, NGS)

  Code 10484 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Classic citrullinemia (ASS1 gene, NGS)

  Code 10481 · Next-generation sequencing (NGS)

  Genes: ASS1

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• CLN3 gene deletion testing

  Code 3066 · Molecular biology

  Genes: CLN3

  Turnaround time: 11 working days

• CLN6 gene testing (NGS, MLPA)

  Code 3500 · Next-generation sequencing (NGS) + MLPA

  Genes: CLN6

  Turnaround time: 33 working days

• CLN7 disease (ceroid lipofuscinosis) (MFSD8 gene, NGS)

  Code 10850 · Next-generation sequencing (NGS)

  Genes: MFSD8

  Turnaround time: 33 working days

• Clubfoot (PITX1 point mutation)

  Code 11290 · Next-generation sequencing (NGS)

  Genes: PITX1

  Turnaround time: 33 working days

• Coats disease (NDP gene, NGS)

  Code 10486 · Next-generation sequencing (NGS)

  Genes: NDP

  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

• Coenzyme Q10 deficiency (16-gene panel, NGS)

  Code 10171 · Next-generation sequencing (NGS)

  Genes: ANO10, APTX, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A and 8 more

  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

• Complement component C3 deficiency (C3 gene, NGS)

  Code 3255 · Next-generation sequencing (NGS)

  Genes: C3

  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

• Cone-rod retinal dystrophy (CRX gene, NGS)

  Code 10792 · Next-generation sequencing (NGS)

  Genes: CRX

  Turnaround time: 33 working days

• Congenital cataract (46-gene panel, NGS)

  Code 10084 · Next-generation sequencing (NGS)

  Genes: AGK, ALDH18A1, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1 and 38 more

  Turnaround time: 33 working days