Sequencing panels

    • Focal facial dermal dysplasia [2 genes]

      Ref.: S-202313130|Turnaround time (TAT) 25 days

    • Goltz-Gorlin syndrome [1 gene]

      Ref.: S-202313131|Turnaround time (TAT) 25 days

    • Goltz-Gorlin syndrome. PORCN gene sequencing by Sanger [1 gene]

      Ref.: S-202211429|Turnaround time (TAT) 25 days

  • Dyskeratosis congenita [25 genes]

    Ref.: S-202313132|Turnaround time (TAT) 25 days

  • Ectodermal dysplasias [83 genes]

    Ref.: S-202313133|Turnaround time (TAT) 25 days

  • Lentiginosis [10 genes]

    Ref.: S-202313134|Turnaround time (TAT) 25 days

  • Syndromes associated with café-au-lait spots [60 genes]

    Ref.: S-202313135|Turnaround time (TAT) 25 days

  • McCune-Albright syndrome. GNAS gene sequencing [1 gene]

    Ref.: S-202314051|Turnaround time (TAT) 25 days

  • Incontinentia Pigmenti. Sequencing of the IKBKG gene by Sanger [1 gene]

    Ref.: S-202009380|Turnaround time (TAT) 25 days

  • Incontinentia Pigmenti. Deletion of exons 4-10 of the IKBKG gene [1 gene]

    Ref.: S-202212864|Turnaround time (TAT) 25 days

  • Diseases associated with hypopigmented macules [33 genes]

    Ref.: S-202313136|Turnaround time (TAT) 25 days

  • Epidermolysis bullosa [40 genes]

    Ref.: S-202313137|Turnaround time (TAT) 25 days

    • Xeroderma pigmentosum [9 genes]

      Ref.: S-202009131|Turnaround time (TAT) 25 days

    • Xeroderma pigmentosum and differential diagnosis based on skin manifestations [19 genes]

      Ref.: S-202313139|Turnaround time (TAT) 25 days

    • Cutaneous porphyrias [9 genes]

      Ref.: S-202313140|Turnaround time (TAT) 25 days

  • Pustular psoriasis [3 genes]

    Ref.: S-202313141|Turnaround time (TAT) 25 days

  • Pityriasis rubra pilaris [1 gene]

    Ref.: S-202313142|Turnaround time (TAT) 25 days

  • Porokeratosis [5 genes]

    Ref.: S-202313143|Turnaround time (TAT) 25 days

  • Non-syndromic ichthyosis [33 genes]

    Ref.: S-202313144|Turnaround time (TAT) 25 days

  • Syndromic ichthyosis [55 genes]

    Ref.: S-202313145|Turnaround time (TAT) 25 days

  • Ichthyosis (extended panel) [158 genes]

    Ref.: S-202313146|Turnaround time (TAT) 25 days

  • Palmoplantar keratoderma [56 genes]

    Ref.: S-202313147|Turnaround time (TAT) 25 days

  • Ichthyosis and keratoderma (global panel) [193 genes]

    Ref.: S-202313148|Turnaround time (TAT) 25 days

  • Acantholytic disorders of the skin [2 genes]

    Ref.: S-202313149|Turnaround time (TAT) 25 days

  • Lipoid proteinosis (Urbach-Wiethe disease). Sequencing of the ECM1 gene by Sanger [1 gene]

    Ref.: S-202212310|Turnaround time (TAT) 25 days

  • Cutis laxa and differential diagnosis [48 genes]

    Ref.: S-202313150|Turnaround time (TAT) 25 days

  • Pseudoxanthoma elasticum and differential diagnosis [39 genes]

    Ref.: S-202313151|Turnaround time (TAT) 25 days

  • Pseudoxanthoma elasticum. Sequencing of the ABCC6 gene by Sanger [1 gene]

    Ref.: S-202211072|Turnaround time (TAT) 25 days

  • Ehlers-Danlos syndrome and differential diagnosis [68 genes]

    Ref.: S-202313152|Turnaround time (TAT) 25 days

  • Lipodystrophies [34 genes]

    Ref.: S-202313827|Turnaround time (TAT) 25 days

  • Panniculitis associated with alpha-1 antitrypsin deficiency. Sequencing of the SERPINA1 gene by Sanger [1 gene]

    Ref.: S-202009881|Turnaround time (TAT) 25 days

  • Non-syndromic alopecia-hypotrichosis and congenital hair loss [49 genes]

    Ref.: S-202313154|Turnaround time (TAT) 25 days

  • Fabry disease, amyloidosis, and cutaneous mastocytosis [5 genes]

    Ref.: S-202313155|Turnaround time (TAT) 25 days

Other services

Turnaround time (TAT): 2 weeks

Studies of carriers of previously described variants in the family using Sanger sequencing.

For structural variants (rearrangement, copy-number variation [insertions, deletions and duplications], inversions, translocations, etc. consult in

Turnaround time (TAT): 35 days

Service of sequencing and interpretation of individual genes. Depending on its size and the regions of interest, we can offer an approach based on Sanger sequencing or based on NGS (enrichment by amplicons or by hybridization probes). NGS-based approach enables detection of copy number variation (CNV).

Turnaround time (TAT): 35 days

Semi-quantitative and widely contrasted technique in molecular genetics laboratories, that allows the diagnosis of pathologies due to variation in the number of copies and, in some cases, to methylation alterations. There are many commercial kits for the study of individual genes, panels of genes related to certain pathologies or extensive chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on the MRC-Holland kits.

Pablo Gargallo, MD

Head of the area of Medical Genetics

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