Table 1. Synthetic representation of the contents, formatting, and structure of the CF test records.

Forename	Surname	Reason	Result	Notes
JOHN	SMITH	fam_hist	cf_carrier	JOHN’s son, ROBERT SMITH, has cystic fibrosis. c.1521_1523delCTT variant has been identified. ROBERT’S paternal aunt, CAROLINE, died of cystic fibrosis.
JANE	SMITH	susp_carrier	1	JANE’s son, ROBERT SMITH, has cystic fibrosis. Her partner, JOHN SMITH, is also a carrier for the c.1521_1523delCTT variant. JANE is also a carrier.
ROBERT	SMITH	IRT_pos	IRT 2 mut	ROBERT has presented with [symptoms] and received a positive IRT test. His father, JOHN SMITH, and mother, JANE SMITH, are carriers for p.(F508del).
DAVID	SMITH	CF	1_mut	DAVID’s son, JOHN SMITH, is a carrier of DF508 and his daughter CAROLINE died of CF. His grandson ROBERT has cystic fibrosis. DAVID is a carrier of DF508. His wife AUDREY is deceased.
ANDREW	JONES	fertility	one/N	ANDREW and his partner have been experiencing fertility issues. Familial variant detected.
DELIA	JONES	FH	NN	DELIA’s cousin, ALEXIA JONES, died of CF. Her and her husband ANDY want to understand their CF risk. No variants detected. ANDREW is a carrier for the c.1521_1523delCTT variant.
MARY	JONES	family	pos	MARY JONES is the father of ANDREW JONES. She is a carrier for the c.1521_1523delCTT variant.

There are synonymous entries in the Reason and Result fields: “fam_hist”, “FH”, and “family” all indicate testing due to family history. Separately, “one/N”, “1_mut”, and “cf_carrier” indicate a single mutation found. Entries such as “pos” are ambiguous. The variant p.(F508del) is referred to by both its DNA and legacy names, c.1521_1523delCTT and DF508 respectively. The Notes column mixes unique identifiers such as forename and surname with clinical data, such as the variants identified. Bold names are individuals without a test record or who have been referred to by a common common permutations of their forename, and are resultantly not indexed by the Forename/Surname columns. The case of Andrew Jones demonstrates a patients test result being recorded in a relatives report. This table is not intended to be exhaustive. IRT = immunoreactive trypsin; FH = family history; NN = Normal.