Progeroid syndromes and related disorders NGS panel

Number of Panel Genes:

Progeroid syndromes and related disorders consist of a wide variety of conditions that are characterized by premature aging or have features of premature aging. Typical features include aged appearance due to reduced subcutaneous fat, wrinkled skin, loose redundant skin, prominent veins, and thin, sparse hair. The more severe progeria findings, premature death due to cardiovascular problems, renal failure or cancer susceptibility, are present in some of these disorders.

The progeroid syndromes and related disorders NGS panel consists of twenty-one genes: AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN and ZMPSTE24.

Copy number variation (CNV) analysis of the progeroid syndromes and related disorders genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.

Gene	Disorder	MIM	Inheritance
AGPAT2	Lipodystrophy, congenital generalized, type 1 (CGL1)	608594	AR
ALDH18A1	Cutis laxa, autosomal dominant 3 (ADCL3) Cutis laxa, autosomal recessive, type IIIA (ARCL3A)	616603 219150	AD AR
B3GALT6	Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2)	615349	AR
B4GALT7	Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1)	130070	AR
BANF1	Nestor-Guillermo progeria syndrome (NGPS)	614008	AR
BSCL2	Lipodystrophy, congenital generalized, type 2 (CGL2)	269700	AR
ERCC2	Xeroderma pigmentosum, complementation group D (XPD)	278730	AR
ERCC3	Xeroderma pigmentosum, complementation group B (XPB)	610651	AR
ERCC4	Xeroderma pigmentosum, complementation group F (XPF)	278760	AR
ERCC5	Xeroderma pigmentosum, complementation group G (XPG)	278780	AR
ERCC6	Cockayne syndrome B (CSB)	133540	AR
ERCC8	Cockayne syndrome A (CSA)	216400	AR
FBN1	Marfan lipodystrophy syndrome (MFLS)	616914	AD
LMNA	Hutchinson-Gilford progeria (HGPS) Mandibuloacral dysplasia (MADA)	176670 248370	AD / AR AR
PDGFRB	Premature aging syndrome, Penttinen type (PENTT)	601812	AD
POLD1	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)	615381	AD
PYCR1	Cutis laxa, autosomal recessive, type IIB (ARCL2B)	612940	AR
RECQL4	Rothmund-Thomson syndrome (RTS)	268400	AR
SLC25A24	Fontaine progeroid syndrome	612289	AD
WRN	Werner syndrome (WRN)	277700	AR
ZMPSTE24	Mandibuloacral dysplasia with type B lipodystrophy (MADB)	608612	AR

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Tests Available

21 Panel Genes: AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24

Test Code: 5379

Test Code: 5380

Test Code: 5381

Test Details

Technical Information

Panel Genes:

AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24

Disease Groups:

Skin, Tooth, Nail and Hair Disorders

Billing

CPT Codes:

81406 x 1

81408 x 1

81479 x 1

Ordering

SKU:

5379

Turnaround Time:

Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Non-Prenatal Specimens:

Whole blood: purple-top (EDTA) tube, minimum of 3 ml
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Prenatal Specimens: